Canonical Allele Identifier: PA203215
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99454
ClinVar RCV Id: RCV000085814 RCV000179292 RCV000269487 RCV000315191 RCV000369853 RCV000369400 RCV001098368 RCV003888483
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Arg212His
CA203214
NM_000350.3:c.635G>A