Allele Registry

Canonical Allele Identifier: PA1139682984

Gene: ABCA4 HGNC NCBI

ClinVar Allele:

856084

ClinVar RCV:

RCV001073590

RCV003405293

ClinVar Variation:

865964

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Arg1129His	CA341291094 NM_000350.3:c.3386G>A