Canonical Allele Identifier: PA2827715533
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1377587
ClinVar RCV Id: RCV001912282 RCV004041105
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340126.2:p.Ser548Leu
CA5293808
NM_001353197.2:c.1643C>T