Canonical Allele Identifier: PA2827717052
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2114941
ClinVar RCV Id: RCV003043037
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340129.1:p.His329Asn
CA375311995
NM_001353200.2:c.985C>A