Canonical Allele Identifier: PA2825816096
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_001129585.1:p.Leu694Val
CA375315181
NM_001136113.2:c.2080C>G