Canonical Allele Identifier: PA2828536594
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2039569

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361619.1:p.Ser601Arg
CA5293921
NM_001374690.1:c.1803C>G
CA375314944
NM_001374690.1:c.1801A>C
CA375314953
NM_001374690.1:c.1803C>A