ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1689218197
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.13400636C= , CM000669.2:g.13400636C=
GRCh38
NC_000007.13:g.13440261C= , CM000669.1:g.13440261C=
GRCh37
NC_000007.12:g.13406786C=
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001745097.1:n.147+90313C=
Search 100 bp 5'
Search 100 bp 3'