Canonical Allele Identifier: PA2828794553
Gene: LARGE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 660773
ClinVar RCV Id: RCV000818043

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365558.1:p.Gln434Arg
CA323711562
NM_001378629.1:c.1301A>G