Canonical Allele Identifier: PA096361
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 7882
ClinVar RCV Id: RCV000008332 RCV000008333 RCV000085785 RCV000763438 RCV000826132 RCV001074885 RCV002247268
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Leu2027Phe
CA119129
NM_000350.3:c.6079C>T