Canonical Allele Identifier: PA916068018
Gene: LARGE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 162585
ClinVar RCV Id: RCV000149996 RCV001212199
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_598397.1:p.Ala752Gly
CA295416
NM_133642.5:c.2255C>G