Canonical Allele Identifier: PA2828795856
Gene: LARGE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1447859
ClinVar RCV Id: RCV001979979
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365560.1:p.Leu248Val
CA323711559
NM_001378631.1:c.742C>G