ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139683664
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
941050
ClinVar RCV Id:
RCV001210757
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Thr1595Ala
CA341283695
NM_000350.3:c.4783A>G