ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658654058
Gene: PSAP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
445595
ClinVar RCV Id:
RCV000514444
RCV001081218
RCV001272678
RCV003962415
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035930.1:p.Ile208Ser
CA5547714
NM_001042465.3:c.623T>G