Canonical Allele Identifier: CA2835278660
Gene:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.122395971C>T , CM000670.2:g.122395971C>T GRCh38
NC_000008.10:g.123408210C>T , CM000670.1:g.123408210C>T GRCh37
NC_000008.9:g.123477391C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928599.1:n.152+3201G>A
XR_928599.3:n.152+3201G>A
Search 100 bp 5'
Search 100 bp 3'