Canonical Allele Identifier: PA2499231539
Gene: ABCA4 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Trp1461Cys
CA341285263
NM_000350.3:c.4383G>T
CA341285265
NM_000350.3:c.4383G>C