Canonical Allele Identifier: PA096129
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 7879
ClinVar RCV Id: RCV000008329 RCV000008328 RCV000085494 RCV000415097 RCV000505063 RCV000623365 RCV000787486 RCV000787768 RCV000787487 RCV001198385 RCV001535670 RCV003224856 RCV004532312
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Gly863Ala
CA119128
NM_000350.3:c.2588G>C