ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829478314
Gene: PSTPIP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
959787
ClinVar RCV Id:
RCV001233197
RCV002563793
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003969.2:p.Val252Ala
CA273759845
NM_003978.5:c.755T>C