Canonical Allele Identifier: PA1139683175
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 957256
ClinVar RCV Id: RCV001230206
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Thr1382Ile
CA341286450
NM_000350.3:c.4145C>T