ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2533370007
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.124306389C>A , CM000669.2:g.124306389C>A
GRCh38
NC_000007.13:g.123946443C>A , CM000669.1:g.123946443C>A
GRCh37
NC_000007.12:g.123733679C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_002956584.1:n.73-89C>A
Search 100 bp 5'
Search 100 bp 3'