Canonical Allele Identifier: PA227115
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99223
ClinVar RCV Id: RCV000085575

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Glu1122Asp
CA227114
NM_000350.3:c.3366G>C
CA341291204
NM_000350.3:c.3366G>T