Canonical Allele Identifier: PA1139753007
Gene: LARGE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 935931
ClinVar RCV Id: RCV001204627
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_598397.1:p.Glu323Asp
CA411545095
NM_133642.5:c.969G>T
CA411545096
NM_133642.5:c.969G>C