ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA227084
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
99199
ClinVar RCV Id:
RCV000085550
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Gly1050Asp
CA227083
NM_000350.3:c.3149G>A