Canonical Allele Identifier: PA096220
Gene: ABCA4 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Leu1014Arg
CA227072
NM_000350.3:c.3041T>G