Canonical Allele Identifier: PA2828792428
Gene: LARGE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1447859
ClinVar RCV Id: RCV001979979
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365556.1:p.Leu501Val
CA323711559
NM_001378627.1:c.1501C>G