Canonical Allele Identifier: PA1139682158
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 856775
ClinVar RCV Id: RCV001062310

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Phe770Leu
CA341277799
NM_000350.3:c.2310C>G
CA341277800
NM_000350.3:c.2310C>A
CA341277806
NM_000350.3:c.2308T>C