ClinGen Allele Registry
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Canonical Allele Identifier:
PA645440389
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
236102
ClinVar RCV Id:
RCV000408467
RCV000761669
RCV001257844
RCV002267731
RCV003330593
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Arg1161His
CA957928
NM_000350.3:c.3482G>A