ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139697305
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_001308066.1:p.Val317Ala
CA273759845
NM_001321137.1:c.950T>C