Canonical Allele Identifier: PA2828792407
Gene: LARGE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2433403
ClinVar RCV Id: RCV003134037

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365556.1:p.Leu485Ile
CA411544691
NM_001378627.1:c.1453C>A