ClinGen Allele Registry
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Canonical Allele Identifier:
CA1817442048
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.125478778C= , CM000670.2:g.125478778C=
GRCh38
NC_000008.10:g.126491020C= , CM000670.1:g.126491020C=
GRCh37
NC_000008.9:g.126560202C=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_928628.1:n.256+5464C=
Search 100 bp 5'
Search 100 bp 3'