Canonical Allele Identifier: PA2828537413
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1395773
ClinVar RCV Id: RCV001887254

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361621.1:p.Phe328Leu
CA375311401
NM_001374692.1:c.982T>C
CA375311412
NM_001374692.1:c.984T>A
CA375311413
NM_001374692.1:c.984T>G