Canonical Allele Identifier: PA227277
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99347
ClinVar RCV Id: RCV000085700 RCV001073775 RCV001196794 RCV001353027 RCV001449733
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Gly172Ser
CA227276
NM_000350.3:c.514G>A