ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827078371
Gene: PSTPIP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
317171
ClinVar RCV Id:
RCV000259621
RCV000416365
RCV001718656
RCV002262997
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308064.1:p.Thr68Met
CA7675732
NM_001321135.2:c.203C>T