Canonical Allele Identifier: PA096542
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 7904
ClinVar RCV Id: RCV000008362 RCV000023139 RCV000078666 RCV000454310 RCV000763044 RCV000778258 RCV000787498 RCV001075868
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Pro1380Leu
CA129033
NM_000350.3:c.4139C>T