Canonical Allele Identifier: PA2827715131
Gene: POMT1 HGNC NCBI
ClinVar RCV:
RCV000032629
ClinVar Variation:
39434
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340126.2:p.Asn90Asp
CA211169
NM_001353197.2:c.268A>G