ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829382354
Gene: PSAP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
300514
ClinVar RCV Id:
RCV000349589
RCV000350842
RCV000389048
RCV001044241
RCV001833438
RCV002262951
RCV002520627
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002769.1:p.Thr391Met
CA5547470
NM_002778.4:c.1172C>T