Canonical Allele Identifier: PA2825815279
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3243
ClinVar RCV Id: RCV000003399 RCV000179928 RCV001264826 RCV001385876 RCV001813942 RCV003234890 RCV003472966
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001129585.1:p.Ala200Pro
CA203493
NM_001136113.2:c.598G>C