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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA670882625
Gene: MMP12
HGNC
NCBI
Linked Data
dbSNP Id:
rs1180223256
gnomAD v3:
11-102867263-A-C
gnomAD v4:
11-102867263-A-C
MyVariant Identifiers:
chr11:g.102867263A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.102867263A>C , CM000673.2:g.102867263A>C
GRCh38
NC_000011.9:g.102737994A>C , CM000673.1:g.102737994A>C
GRCh37
NC_000011.8:g.102243204A>C
NCBI36
NG_032936.1:g.12772T>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000571244.3:c.911+7T>G
MANE Select
ENSP00000458585.1:n.911+7T>G
ENST00000571244.2:c.911+7T>G
ENSP00000458585.1:n.911+7T>G
NM_002426.4:c.911+7T>G
NP_002417.2:n.911+7T>G
NM_002426.5:c.911+7T>G
NP_002417.2:n.911+7T>G
NM_002426.6:c.911+7T>G
MANE Select
NP_002417.2:n.911+7T>G
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