Canonical Allele Identifier: CA2769198153
Gene:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.162656586C>T , CM000667.2:g.162656586C>T GRCh38
NC_000005.9:g.162083592C>T , CM000667.1:g.162083592C>T GRCh37
NC_000005.8:g.162016170C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001742958.1:n.418+3516G>A
Search 100 bp 5'
Search 100 bp 3'