Canonical Allele Identifier: PA2828535866
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 471375
ClinVar RCV Id: RCV000558807 RCV003459248
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361618.1:p.Trp460Ser
CA5293687
NM_001374689.1:c.1379G>C