Canonical Allele Identifier: PA2825815643
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2443410
ClinVar RCV Id: RCV003152017
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001129585.1:p.Gly458Arg
CA200795122
NM_001136113.2:c.1372G>C
CA375311714
NM_001136113.2:c.1372G>A