Canonical Allele Identifier: PA200668
Gene: ABCA4 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.His423Arg
CA200667
NM_000350.3:c.1268A>G
CA2573132728
NM_000350.3:c.1268_1269delinsGT