ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096324
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7911
ClinVar RCV Id:
RCV000008371
RCV000008370
RCV000008372
RCV000085762
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Leu1940Pro
CA119145
NM_000350.3:c.5819T>C