ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825587205
Gene: LCA5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000180711
RCV001272068
RCV001335589
ClinVar Variation:
199195
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001116241.1:p.Asp676Tyr
CA248276
NM_001122769.3:c.2026G>T