ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580110083
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1948836
ClinVar RCV Id:
RCV002668047
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Gly2059Asp
CA956996
NM_000350.3:c.6176G>A