ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1769514495
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.20734855C= , CM000670.2:g.20734855C=
GRCh38
NC_000008.10:g.20592366C= , CM000670.1:g.20592366C=
GRCh37
NC_000008.9:g.20636646C=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_949569.3:n.72-55591C=
Search 100 bp 5'
Search 100 bp 3'