ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096709
Gene: ABCA4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Ser765Asn
CA226988
NM_000350.3:c.2294G>A