ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA095315
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7899
ClinVar RCV Id:
RCV000008356
RCV000085719
RCV001075717
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Arg18Trp
CA227296
NM_000350.3:c.52C>T