Canonical Allele Identifier: PA2827716001
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 597449
ClinVar RCV Id: RCV000733573
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340127.2:p.Leu429Phe
CA5293684
NM_001353198.2:c.1285C>T