ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828940361
Gene: LCA5L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2491128
ClinVar RCV Id:
RCV004280150
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371220.1:p.Ala392Val
CA410288946
NM_001384291.1:c.1175C>T