Canonical Allele Identifier: PA2828536007
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 283065
ClinVar RCV Id: RCV000325563 RCV000800012 RCV003278734
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361618.1:p.Arg595Gln
CA5293827
NM_001374689.1:c.1784G>A