Canonical Allele Identifier: PA2828536930
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1013680
ClinVar RCV Id: RCV001312304
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361620.1:p.Pro345Ser
CA375311777
NM_001374691.1:c.1033C>T