Canonical Allele Identifier: CA1817442081
Gene:

Linked Data

dbSNP Id: rs1417712956
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125478835T>C , CM000670.2:g.125478835T>C GRCh38
NC_000008.10:g.126491077T>C , CM000670.1:g.126491077T>C GRCh37
NC_000008.9:g.126560259T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928628.1:n.256+5521T>C
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