ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096234
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
99217
ClinVar RCV Id:
RCV000085568
RCV000779010
RCV001074134
RCV002247489
RCV001723665
RCV003324509
RCV002051808
RCV003324510
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Leu11Pro
CA227106
NM_000350.3:c.32T>C