ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827078700
Gene: PSTPIP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308064.1:p.Ala230Thr
CA116855
NM_001321135.2:c.688G>A