Canonical Allele Identifier: PA285823
Gene: ABCA4 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Pro1948Leu
CA285822
NM_000350.3:c.5843C>T
CA645372217
NM_000350.3:c.5843_5844delinsTG