ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580110081
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1966191
ClinVar RCV Id:
RCV002716382
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Ser2054Ile
CA341278369
NM_000350.3:c.6161G>T