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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:
CA693789406
Gene: PGAM1P5
HGNC
NCBI
Linked Data
dbSNP Id:
rs1211422941
gnomAD v3:
12-95566118-TC-T
gnomAD v4:
12-95566118-TC-T
MyVariant Identifiers:
chr12:g.95959895del (hg19)
chr12:g.95566119del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.95566119del , CM000674.2:g.95566119del
GRCh38
NC_000012.11:g.95959895del , CM000674.1:g.95959895del
GRCh37
NC_000012.10:g.94484026del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000626376.2:n.219+14319del
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