ClinGen Allele Registry
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Canonical Allele Identifier:
PA227216
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
99301
ClinVar RCV Id:
RCV000085654
RCV000402682
RCV000408574
RCV000844929
RCV001100156
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Arg152Gln
CA227215
NM_000350.3:c.455G>A