Canonical Allele Identifier: PA2828538451
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 856405
ClinVar RCV Id: RCV001061860 RCV003132198 RCV002553908
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361624.1:p.Tyr350Cys
CA5293694
NM_001374695.1:c.1049A>G