Canonical Allele Identifier: PA2742020552
Gene: ABCA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2594187
ClinVar RCV Id: RCV004340154
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_758424.1:p.Leu1420Phe
CA8736771
NM_172232.4:c.4258C>T