ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829478309
Gene: PSTPIP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003969.2:p.Glu247Lys
CA393521017
NM_003978.5:c.739G>A