Canonical Allele Identifier: PA096349
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 7893
ClinVar RCV Id: RCV000008347 RCV000085774
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Leu1971Arg
CA119134
NM_000350.3:c.5912T>G