ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645439966
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
389679
ClinVar RCV Id:
RCV000430954
RCV001074641
RCV000787485
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Asp846Val
CA16603706
NM_000350.3:c.2537A>T