Canonical Allele Identifier: PA2828795396
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_001365559.1:p.Leu300Val
CA323711559
NM_001378630.1:c.898C>G