Canonical Allele Identifier: PA1139722773
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 597449
ClinVar RCV Id: RCV000733573

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_009102.4:p.Leu483Phe
CA5293684
NM_007171.4:c.1447C>T