Canonical Allele Identifier: PA2828536604
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3216744
ClinVar RCV Id: RCV004514607
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361619.1:p.Ser613Ala
CA375315087
NM_001374690.1:c.1837T>G