ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA097027
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7880
ClinVar RCV Id:
RCV000008330
RCV000085506
RCV001002838
RCV001073603
RCV001807722
RCV002247267
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Val931Met
CA227031
NM_000350.3:c.2791G>A