Canonical Allele Identifier: PA2825815727
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 448111
ClinVar RCV Id: RCV000516425 RCV001369456
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001129585.1:p.Ala495Val
CA5293711
NM_001136113.2:c.1484C>T