Canonical Allele Identifier: PA096185
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99311
ClinVar RCV Id: RCV000085664 RCV000314956 RCV000335992 RCV000505175 RCV000407014 RCV000408556 RCV000787778 RCV001005005 RCV000787502 RCV002509209
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Ile1562Thr
CA227226
NM_000350.3:c.4685T>C