ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139683154
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
969178
ClinVar RCV Id:
RCV001244465
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Ala1357Val
CA341286982
NM_000350.3:c.4070C>T