ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096811
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
99153
ClinVar RCV Id:
RCV000085500
RCV000260644
RCV000280747
RCV000408596
RCV000375069
RCV000315748
RCV001096530
RCV001197697
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Thr897Ile
CA227022
NM_000350.3:c.2690C>T