ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828435290
Gene: PSPH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357439.1:p.Val116Ile
CA4268662
NM_001370510.1:c.346G>A