ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573166878
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1364391
ClinVar RCV Id:
RCV001905372
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Asp1121His
CA341291228
NM_000350.3:c.3361G>C