ClinGen Allele Registry
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Canonical Allele Identifier:
CA2580596563
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.125474167A>C , CM000670.2:g.125474167A>C
GRCh38
NC_000008.10:g.126486409A>C , CM000670.1:g.126486409A>C
GRCh37
NC_000008.9:g.126555591A>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_928628.1:n.256+853A>C
Search 100 bp 5'
Search 100 bp 3'