Canonical Allele Identifier: PA202870
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99390
ClinVar RCV Id: RCV000085744 RCV000178424 RCV000348932 RCV000293913 RCV000309306 RCV000391356 RCV001002812 RCV000721173 RCV001097975 RCV001723669 RCV001197336 RCV001262623
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Asn1868Ile
CA202869
NM_000350.3:c.5603A>T
CA2499306150
NM_000350.3:c.[5603A>T;5461-10T>C]
CA2499306152
NM_000350.3:c.[5603A>T;2588G>C]
CA2499306153
NM_000350.3:c.[5603A>T;1610G>A]
CA2499306154
NM_000350.3:c.[5603A>T;52C>T]