Canonical Allele Identifier: PA095325
Gene: ABCA4 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Arg2030Gln
CA227366
NM_000350.3:c.6089G>A
CA645372400
NM_000350.3:c.[6089G>A;1A>G]