Canonical Allele Identifier: CA1817441969
Gene:

Linked Data

dbSNP Id: rs1812780474
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125478677A>C , CM000670.2:g.125478677A>C GRCh38
NC_000008.10:g.126490919A>C , CM000670.1:g.126490919A>C GRCh37
NC_000008.9:g.126560101A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928628.1:n.256+5363A>C
Search 100 bp 5'
Search 100 bp 3'