Canonical Allele Identifier: PA235749
Gene: ABCA4 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Trp1618Arg
CA235748
NM_000350.3:c.4852T>A
CA341283239
NM_000350.3:c.4852T>C