Canonical Allele Identifier: PA2827717274
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 802520
ClinVar RCV Id: RCV000988265
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340129.1:p.Leu557Pro
CA5293942
NM_001353200.2:c.1670T>C