Canonical Allele Identifier: PA1139684059
Gene: ABCA4 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Met1777Leu
CA957299
NM_000350.3:c.5329A>T
CA341281506
NM_000350.3:c.5329A>C