ClinGen Allele Registry
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Canonical Allele Identifier:
PA645439876
Gene: ABCA4
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000264059
RCV000270788
RCV000328209
RCV000385092
RCV000505101
RCV000512657
RCV000844930
RCV001073584
RCV001102037
ClinVar Variation:
283387
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Arg511His
CA958501
NM_000350.3:c.1532G>A