ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1740470125
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.124306362T= , CM000669.2:g.124306362T=
GRCh38
NC_000007.13:g.123946416T= , CM000669.1:g.123946416T=
GRCh37
NC_000007.12:g.123733652T=
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_002956584.1:n.73-116T=
Search 100 bp 5'
Search 100 bp 3'