Canonical Allele Identifier: PA2825815930
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 285305
ClinVar RCV Id: RCV000289951 RCV000554517
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001129585.1:p.Arg599Trp
CA5293826
NM_001136113.2:c.1795C>T