ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499231507
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1048120
ClinVar RCV Id:
RCV001352946
RCV001871906
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Gln1060Pro
CA958030
NM_000350.3:c.3179A>C