ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825403077
Gene: PSAP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
300536
ClinVar RCV Id:
RCV000304205
RCV000345088
RCV000393668
RCV000972285
RCV001552293
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035930.1:p.Ala30Ser
CA5547906
NM_001042465.3:c.88G>T