ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827079710
Gene: PSTPIP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308065.1:p.Ala349Pro
CA7676155
NM_001321136.2:c.1045G>C