ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499231514
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1015488
ClinVar RCV Id:
RCV001314356
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Ile1113Val
CA341291367
NM_000350.3:c.3337A>G