Canonical Allele Identifier: PA2825815613
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 538722
ClinVar RCV Id: RCV000648158 RCV000733057 RCV004544878
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001129585.1:p.Arg444Cys
CA5293658
NM_001136113.2:c.1330C>T