ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828435171
Gene: PSPH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357438.1:p.Pro57Ser
CA4268748
NM_001370509.1:c.169C>T