ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139683420
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
866714
ClinVar RCV Id:
RCV001074951
RCV001862585
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Cys1502Phe
CA341284821
NM_000350.3:c.4505G>T