ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645419273
Gene: AP5Z1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
360343
ClinVar RCV Id:
RCV000433241
RCV000462575
RCV000766950
RCV002523598
RCV001848711
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055670.1:p.Ser655Leu
CA4138240
NM_014855.3:c.1964C>T