ClinGen Allele Registry
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Canonical Allele Identifier:
CA1140240082
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.82846152C= , CM000663.2:g.82846152C=
GRCh38
NC_000001.10:g.83311835C= , CM000663.1:g.83311835C=
GRCh37
NC_000001.9:g.83084423C=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_947534.1:n.67+7426G=
Search 100 bp 5'
Search 100 bp 3'