ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2263926882
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.50211623C= , CM000679.2:g.50211623C=
GRCh38
NC_000017.10:g.48288984C= , CM000679.1:g.48288984C=
GRCh37
NC_000017.9:g.45643983C=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_934838.1:n.43-2212C=
Search 100 bp 5'
Search 100 bp 3'