Canonical Allele Identifier: PA227180
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99273
ClinVar RCV Id: RCV000085626 RCV001195926 RCV003330431
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Pro143Leu
CA227179
NM_000350.3:c.428C>T