Canonical Allele Identifier: PA2828795426
Gene: LARGE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 167251
ClinVar RCV Id: RCV000153444 RCV001304157
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365559.1:p.Arg325His
CA234211
NM_001378630.1:c.974G>A