Canonical Allele Identifier: PA2499231599
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1037523
ClinVar RCV Id: RCV001340688
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Val643Leu
CA341279156
NM_000350.3:c.1927G>T
CA341279158
NM_000350.3:c.1927G>C