ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645413987
Gene: PSAP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
316052
ClinVar RCV:
RCV000309664
RCV000366675
RCV000402799
RCV000407182
RCV002520626
ClinVar Variation:
300508
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035930.1:p.His489Tyr
CA5547329
NM_001042465.3:c.1465C>T