ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096248
Gene: ABCA4
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000008361
RCV000085583
RCV000176456
RCV000308786
RCV000340328
RCV000343774
RCV000401597
RCV000408567
RCV001096421
ClinVar Variation:
7903
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Leu1201Arg
CA119137
NM_000350.3:c.3602T>G