ClinGen Allele Registry
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Canonical Allele Identifier:
CA1880834376
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.129576840C= , CM000671.2:g.129576840C=
GRCh38
NC_000009.11:g.132339119C= , CM000671.1:g.132339119C=
GRCh37
NC_000009.10:g.131378940C=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_930390.1:n.182+1242C=
Search 100 bp 5'
Search 100 bp 3'