ClinGen Allele Registry
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Canonical Allele Identifier:
CA1728106739
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.97388495C= , CM000669.2:g.97388495C=
GRCh38
NC_000007.13:g.97017807C= , CM000669.1:g.97017807C=
GRCh37
NC_000007.12:g.96855743C=
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001745293.1:n.127-59848G=
Search 100 bp 5'
Search 100 bp 3'