Canonical Allele Identifier: PA2828538432
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1374758
ClinVar RCV Id: RCV001900686
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361624.1:p.Ser327Arg
CA375311694
NM_001374695.1:c.979A>C
CA375311709
NM_001374695.1:c.981C>A
CA375311712
NM_001374695.1:c.981C>G