ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA248277
Gene: LCA5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
199195
ClinVar RCV Id:
RCV000180711
RCV001335589
RCV001272068
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_859065.2:p.Asp676Tyr
CA248276
NM_181714.4:c.2026G>T