ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825403462
Gene: PSAP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
300533
ClinVar RCV Id:
RCV000274090
RCV000272506
RCV000327586
RCV000386828
RCV002522167
RCV004021479
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035931.1:p.Pro56Arg
CA5547881
NM_001042466.3:c.167C>G