Canonical Allele Identifier: PA2827714189
Gene: POMT1 HGNC NCBI
ClinVar RCV:
RCV000174566
ClinVar Variation:
95454
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340124.1:p.Glu288Val
CA222991
NM_001353195.2:c.863_864delinsTC
CA375309910
NM_001353195.2:c.863A>T