ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139683693
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
941485
ClinVar RCV Id:
RCV001211275
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.His1608Arg
CA26845013
NM_000350.3:c.4823A>G