Canonical Allele Identifier: PA3249364302
Gene: ABCA2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_997698.1:p.Asp709Glu
CA201709296
NM_212533.3:c.2127T>G
CA375674319
NM_212533.3:c.2127T>A