Canonical Allele Identifier: PA2828794385
Gene: LARGE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 586123
ClinVar RCV Id: RCV000712205 RCV001056385 RCV001332509
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365558.1:p.Gln314Leu
CA10202901
NM_001378629.1:c.941A>T