Canonical Allele Identifier: PA2828940361
Gene: LCA5L HGNC NCBI
ClinVar RCV:
RCV004280150
ClinVar Variation:
2491128
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001371220.1:p.Ala392Val
CA410288946
NM_001384291.1:c.1175C>T