ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825403123
Gene: PSAP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
300529
ClinVar RCV Id:
RCV000294452
RCV000329512
RCV000349338
RCV000384126
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035930.1:p.Met76Lys
CA5547842
NM_001042465.3:c.227T>A