Canonical Allele Identifier: PA2828537149
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2435192
ClinVar RCV Id: RCV003135111
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361620.1:p.Leu577Val
CA375315181
NM_001374691.1:c.1729C>G