Canonical Allele Identifier: PA1139683901
Gene: ABCA4 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Gln1713Arg
CA957370
NM_000350.3:c.5138A>G
CA916082054
NM_000350.3:c.5137_5138delinsAG