Canonical Allele Identifier: PA915961729
Gene: ABCA4 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Lys583Asn
CA958443
NM_000350.3:c.1749G>C
CA341279917
NM_000350.3:c.1749G>T