ClinGen Allele Registry
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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: ABCA4
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
ENSP00000359245.3:p.Ala1038Val
CA031062
ENST00000370225.4:c.[3113C>T;1622T>C]
CA119135
ENST00000370225.4:c.3113C>T