Canonical Allele Identifier: PA2828794550
Gene: LARGE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2433403
ClinVar RCV Id: RCV003134037
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365558.1:p.Leu433Ile
CA411544691
NM_001378629.1:c.1297C>A