ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139697307
Gene: PSTPIP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
970285
ClinVar RCV Id:
RCV001245833
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308066.1:p.Arg318Trp
CA7675974
NM_001321137.1:c.952C>T