Canonical Allele Identifier: PA1139752989
Gene: LARGE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 844402
ClinVar RCV Id: RCV001047236
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_598397.1:p.Ala320Thr
CA10202895
NM_133642.5:c.958G>A