Canonical Allele Identifier: PA2828537201
Gene: POMT1 HGNC NCBI
ClinVar RCV:
RCV000032629
ClinVar Variation:
39434
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361621.1:p.Asn27Asp
CA211169
NM_001374692.1:c.79A>G