ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828940596
Gene: LCA5L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3118019
ClinVar RCV Id:
RCV004410330
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371230.1:p.Tyr98Cys
CA10028992
NM_001384301.1:c.293A>G