Canonical Allele Identifier: PA2825815495
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 289043
ClinVar RCV Id: RCV000268753 RCV002518064
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001129585.1:p.Asp377Asn
CA10606306
NM_001136113.2:c.1129G>A