Canonical Allele Identifier: PA2580112479
Gene: ABCA4 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.His566Gln
CA958452
NM_000350.3:c.1698C>A
CA341280108
NM_000350.3:c.1698C>G