ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827079597
Gene: PSTPIP1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000127638
RCV000273267
RCV003915268
ClinVar Variation:
138828
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308065.1:p.Pro294Leu
CA292944
NM_001321136.2:c.881C>T