Canonical Allele Identifier: PA3063897373
Gene: ABCA4 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Cys2150Ser
CA341277286
NM_000350.3:c.6449G>C
CA341277289
NM_000350.3:c.6448T>A