Canonical Allele Identifier: PA2828791510
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_001365555.1:p.Arg515His
CA10202715
NM_001378626.1:c.1544G>A