ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499302092
Gene: LCA5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1014700
ClinVar RCV Id:
RCV001313467
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_859065.2:p.Arg597Lys
CA3900772
NM_181714.4:c.1790G>A