Canonical Allele Identifier: PA2829913592
Gene: ABCA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2594187
ClinVar RCV Id: RCV004340154

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_061142.2:p.Leu1420Phe
CA8736771
NM_018672.5:c.4258C>T