ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645441122
Gene: ABCA4
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
237639
ClinVar RCV:
RCV000408493
RCV001197194
ClinVar Variation:
236142
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Thr1981Arg
CA10602412
NM_000350.3:c.5942C>G