Canonical Allele Identifier: PA2828537122
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1985022
ClinVar RCV Id: RCV002775799
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361620.1:p.Gln555Arg
CA375314926
NM_001374691.1:c.1664A>G