ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828435600
Gene: PSPH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357442.1:p.Ala127Thr
CA4268655
NM_001370513.1:c.379G>A