Canonical Allele Identifier: CA2718231308
Gene:

Linked Data

dbSNP Id: rs2130167834
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.126999369A>C , CM000670.2:g.126999369A>C GRCh38
NC_000008.10:g.128011614A>C , CM000670.1:g.128011614A>C GRCh37
NC_000008.9:g.128080796A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001746076.2:n.1301-7186A>C
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Search 100 bp 3'