ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096652
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
99344
ClinVar RCV Id:
RCV000085697
RCV000408469
RCV002490743
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Ser1696Asn
CA227272
NM_000350.3:c.5087G>A