Canonical Allele Identifier: PA2828795118
Gene: LARGE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 452074
ClinVar RCV Id: RCV000521618
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365559.1:p.Met109Lys
CA411545192
NM_001378630.1:c.326T>A