Canonical Allele Identifier: PA1139743487
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3239
ClinVar RCV Id: RCV000003395 RCV001813941 RCV003231073 RCV003764521
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361618.1:p.Pro275Leu
CA278042
NM_001374689.1:c.824C>T