ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645439876
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
283387
ClinVar RCV Id:
RCV000264059
RCV000270788
RCV000512657
RCV000328209
RCV000844930
RCV000385092
RCV001073584
RCV001102037
RCV000505101
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Arg511His
CA958501
NM_000350.3:c.1532G>A