ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499231579
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1037733
ClinVar RCV Id:
RCV001340926
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Tyr2071Asn
CA341278274
NM_000350.3:c.6211T>A