Canonical Allele Identifier: PA2827714405
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 194962
ClinVar RCV Id: RCV000175455 RCV000648152
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340124.1:p.Pro514Leu
CA278501
NM_001353195.2:c.1541C>T