Canonical Allele Identifier: CA2602042527
Gene:

Linked Data

gnomAD v3: 7-97388451-G-A
gnomAD v4: 7-97388451-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.97388451G>A , CM000669.2:g.97388451G>A GRCh38
NC_000007.13:g.97017763G>A , CM000669.1:g.97017763G>A GRCh37
NC_000007.12:g.96855699G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745293.1:n.127-59804C>T
Search 100 bp 5'
Search 100 bp 3'