Canonical Allele Identifier: PA2825815219
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 471382
ClinVar RCV Id: RCV000527153
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001129585.1:p.His130Pro
CA5293245
NM_001136113.2:c.389A>C