ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA107243
Gene: PSAP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13372
ClinVar RCV Id:
RCV000014301
RCV003317034
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002769.1:p.Leu349Pro
CA123069
NM_002778.4:c.1046T>C