ClinGen Allele Registry
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Canonical Allele Identifier:
CA1050130651
Community Standard Title: NC_000003.12:g.81952561G>C
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.81952561G>C , CM000665.2:g.81952561G>C
GRCh38
NC_000003.11:g.82001712G>C , CM000665.1:g.82001712G>C
GRCh37
NC_000003.10:g.82084402G>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_940999.1:n.463-559G>C
XR_940999.2:n.463-559G>C
Search 100 bp 5'
Search 100 bp 3'