Canonical Allele Identifier: PA2828940242
Gene: LCA5L HGNC NCBI

Linked Data

ClinVar Variation Id: 2491128
ClinVar RCV Id: RCV004280150
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001371216.1:p.Ala392Val
CA410288946
NM_001384287.1:c.1175C>T