ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA095039
Gene: ABCA4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Ala1038Val
CA031062
NM_000350.3:c.[3113C>T;1622T>C]
CA119135
NM_000350.3:c.3113C>T