Canonical Allele Identifier: PA2573166674
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1435748
ClinVar RCV Id: RCV001974531

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Phe736Leu
CA341278017
NM_000350.3:c.2208C>G
CA341278018
NM_000350.3:c.2208C>A
CA341278023
NM_000350.3:c.2206T>C