ClinGen Allele Registry
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Canonical Allele Identifier:
CA1839056689
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.21755991C= , CM000671.2:g.21755991C=
GRCh38
NC_000009.11:g.21755990C= , CM000671.1:g.21755990C=
GRCh37
NC_000009.10:g.21745990C=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001746563.2:n.163+11834G=
Search 100 bp 5'
Search 100 bp 3'