Canonical Allele Identifier: PA2827715399
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1980743
ClinVar RCV Id: RCV002780330
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340126.2:p.Asn417Ser
CA375311464
NM_001353197.2:c.1250A>G