Canonical Allele Identifier: PA2827716250
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2287454
ClinVar RCV Id: RCV002831769
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340127.2:p.Ile690Val
CA375315492
NM_001353198.2:c.2068A>G