Canonical Allele Identifier: PA2580107931
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2253673
ClinVar RCV Id: RCV002782440
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Lys792Asn
CA341277663
NM_000350.3:c.2376G>T
CA341277664
NM_000350.3:c.2376G>C