ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096093
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
99107
ClinVar RCV Id:
RCV000085451
RCV000132588
RCV001074366
RCV002490741
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Gly65Glu
CA226964
NM_000350.3:c.194G>A