Canonical Allele Identifier: PA226927
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99080

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Pro597Ser
CA226926
NM_000350.3:c.1789C>T