Canonical Allele Identifier: PA2829563811
Gene: LARGE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 660773
ClinVar RCV Id: RCV000818043
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004728.1:p.Gln486Arg
CA323711562
NM_004737.7:c.1457A>G