Canonical Allele Identifier: PA2828793471
Gene: LARGE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2433403
ClinVar RCV Id: RCV003134037
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365557.1:p.Leu485Ile
CA411544691
NM_001378628.1:c.1453C>A