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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:
CA603097682
Gene:
Linked Data
dbSNP Id:
rs1267533812
gnomAD v2:
12-6502674-T-A
gnomAD v3:
12-6393508-T-A
gnomAD v4:
12-6393508-T-A
MyVariant Identifiers:
chr12:g.6502674T>A (hg19)
chr12:g.6393508T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.6393508T>A , CM000674.2:g.6393508T>A
GRCh38
NC_000012.11:g.6502674T>A , CM000674.1:g.6502674T>A
GRCh37
NC_000012.10:g.6372935T>A
NCBI36
NG_033039.1:g.23141T>A
NG_033039.2:g.23141T>A
Transcript Alleles
HGVS
Amino-acid change
XR_931594.1:n.143T>A
Search 100 bp 5'
Search 100 bp 3'