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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:
CA409214611
Gene: MMP9
HGNC
NCBI
Linked Data
COSMIC:
COSM6331874
MyVariant Identifiers:
chr20:g.44640239G>T (hg19)
chr20:g.46011600G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.46011600G>T , CM000682.2:g.46011600G>T
GRCh38
NC_000020.10:g.44640239G>T , CM000682.1:g.44640239G>T
GRCh37
NC_000020.9:g.44073646G>T
NCBI36
NG_011468.1:g.7693G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000372330.3:c.850G>T
MANE Select
ENSP00000361405.3:p.Asp284Tyr
NM_004994.2:c.850G>T
NP_004985.2:p.Asp284Tyr
NM_004994.3:c.850G>T
MANE Select
NP_004985.2:p.Asp284Tyr
Search 100 bp 5'
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