Canonical Allele Identifier: PA2827715394
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1395773
ClinVar RCV Id: RCV001887254
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340126.2:p.Phe413Leu
CA375311401
NM_001353197.2:c.1237T>C
CA375311412
NM_001353197.2:c.1239T>A
CA375311413
NM_001353197.2:c.1239T>G