Canonical Allele Identifier: CA1022637930
Gene:

Linked Data

gnomAD v3: 21-43168905-C-T
gnomAD v4: 21-43168905-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43168905C>T , CM000683.2:g.43168905C>T GRCh38
NG_009823.1:g.4875C>T

Transcript Alleles

HGVS Amino-acid Change
XR_001755073.1:n.647+2132G>A
Search 100 bp 5'
Search 100 bp 3'