ClinGen Allele Registry
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Canonical Allele Identifier:
CA1740470118
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.124306354G= , CM000669.2:g.124306354G=
GRCh38
NC_000007.13:g.123946408G= , CM000669.1:g.123946408G=
GRCh37
NC_000007.12:g.123733644G=
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_002956584.1:n.73-124G=
Search 100 bp 5'
Search 100 bp 3'