ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA095786
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
99123
ClinVar RCV Id:
RCV000085467
RCV000408455
RCV001074411
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Cys764Tyr
CA226986
NM_000350.3:c.2291G>A