Canonical Allele Identifier: PA2828538116
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1343632
ClinVar RCV Id: RCV001844649
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361622.1:p.Leu538Phe
CA5293882
NM_001374693.1:c.1612C>T