Canonical Allele Identifier: PA096759
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99271
ClinVar RCV Id: RCV000085624 RCV000176915 RCV000307168 RCV000346856 RCV000408392 RCV000294305 RCV001098065 RCV003888474
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Thr1428Met
CA202170
NM_000350.3:c.4283C>T