ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139683634
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
866045
ClinVar RCV Id:
RCV001073758
RCV001359813
RCV002505662
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Val1589Met
CA957489
NM_000350.3:c.4765G>A