Canonical Allele Identifier: PA2825815745
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 95459
ClinVar RCV Id: RCV000192982 RCV000443667 RCV000515174 RCV001166758 RCV001085429 RCV001252355 RCV001332898
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001129585.1:p.Arg500Lys
CA206170
NM_001136113.2:c.1499G>A