Canonical Allele Identifier: PA2825815170
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 502200
ClinVar RCV Id: RCV000591710 RCV000819538 RCV003459474 RCV002532650
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001129585.1:p.Pro66Leu
CA5293180
NM_001136113.2:c.197C>T