ClinGen Allele Registry
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Canonical Allele Identifier:
PA645440242
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
286835
ClinVar RCV Id:
RCV000316390
RCV001075267
RCV001101951
RCV002487242
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Pro940Arg
CA958146
NM_000350.3:c.2819C>G