Canonical Allele Identifier: PA2827079571
Gene: PSTPIP1 HGNC NCBI
ClinVar RCV:
RCV000274704
ClinVar Variation:
280942
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308065.1:p.Asp280His
CA10603744
NM_001321136.2:c.838G>C