ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916024898
Gene: PSTPIP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308066.1:p.Glu417Lys
CA7676149
NM_001321137.1:c.1249G>A