Canonical Allele Identifier: PA095501
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99084
ClinVar RCV Id: RCV000085428 RCV000408597 RCV000504951 RCV000850520 RCV001723664 RCV002250560 RCV001849310 RCV001353025 RCV002498452 RCV003324506
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Arg602Trp
CA226932
NM_000350.3:c.1804C>T