ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2263927004
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.50211896C= , CM000679.2:g.50211896C=
GRCh38
NC_000017.10:g.48289257C= , CM000679.1:g.48289257C=
GRCh37
NC_000017.9:g.45644256C=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_934838.1:n.43-1939C=
Search 100 bp 5'
Search 100 bp 3'