Canonical Allele Identifier: PA096979
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 7884
ClinVar RCV Id: RCV000008335 RCV000078671 RCV000340261 RCV000259072 RCV000285333 RCV000393715 RCV000393726 RCV000504806 RCV000778139 RCV000787769 RCV001075661 RCV002470704
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Val2050Leu
CA220688
NM_000350.3:c.6148G>C
CA645372399
NM_000350.3:c.[6148G>C;5381C>A]