ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827078734
Gene: PSTPIP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1519498
ClinVar RCV Id:
RCV002024654
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308064.1:p.Arg253Gln
CA7675975
NM_001321135.2:c.758G>A