ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645413978
Gene: PSAP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
300517
ClinVar RCV Id:
RCV000273320
RCV000325945
RCV000365539
RCV000382922
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035930.1:p.Ile341Val
CA5547512
NM_001042465.3:c.1021A>G