Canonical Allele Identifier: PA2827715373
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 285174
ClinVar RCV Id: RCV000404164 RCV000764807 RCV001217205
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340126.2:p.Ala386Val
CA5293593
NM_001353197.2:c.1157C>T