ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915962012
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
689736
ClinVar RCV Id:
RCV000850519
RCV001234782
RCV001262439
RCV002051899
RCV001074418
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Gly2074Val
CA956985
NM_000350.3:c.6221G>T