Canonical Allele Identifier: CA1817442130
Gene:

Linked Data

dbSNP Id: rs1812792056
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125478901T>C , CM000670.2:g.125478901T>C GRCh38
NC_000008.10:g.126491143T>C , CM000670.1:g.126491143T>C GRCh37
NC_000008.9:g.126560325T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928628.1:n.256+5587T>C
Search 100 bp 5'
Search 100 bp 3'