Canonical Allele Identifier: PA2828794592
Gene: LARGE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1519060
ClinVar RCV Id: RCV002024323
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365558.1:p.Arg463His
CA10202715
NM_001378629.1:c.1388G>A