Canonical Allele Identifier: PA2828535620
Gene: POMT1 HGNC NCBI
ClinVar RCV:
RCV003069110
ClinVar Variation:
2154108
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361618.1:p.Trp132Cys
CA5293322
NM_001374689.1:c.396G>T
CA375307163
NM_001374689.1:c.396G>C