Canonical Allele Identifier: PA095999
Gene: ABCA4 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Gly1748Arg
CA227290
NM_000350.3:c.5242G>A
CA341281690
NM_000350.3:c.5242G>C