Canonical Allele Identifier: PA227052
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99174
ClinVar RCV Id: RCV000085523 RCV000504717 RCV000505078 RCV002498454
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Thr972Asn
CA227051
NM_000350.3:c.2915C>A