Canonical Allele Identifier: PA2828795408
Gene: LARGE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1519060
ClinVar RCV Id: RCV002024323
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365559.1:p.Arg314His
CA10202715
NM_001378630.1:c.941G>A