Canonical Allele Identifier: PA2827713829
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1377587
ClinVar RCV Id: RCV001912282 RCV004041105
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340123.1:p.Ser526Leu
CA5293808
NM_001353194.2:c.1577C>T