Canonical Allele Identifier: PA2573102288
Gene: ABCA2 HGNC NCBI
ClinVar RCV:
RCV001837198
ClinVar Variation:
1341718
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_997698.1:p.Tyr2042His
CA5353785
NM_212533.3:c.6124T>C