ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645439953
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
417985
ClinVar RCV Id:
RCV000478565
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Arg785Gly
CA958296
NM_000350.3:c.2353C>G