ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3064933530
Gene: ABCA4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Asp2095Gly
CA341277634
NM_000350.3:c.6284A>G