Canonical Allele Identifier: PA2827715580
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_001340126.2:p.Pro599Leu
CA278501
NM_001353197.2:c.1796C>T