ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573239806
Gene: PSPH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004568.2:p.Glu225Lys
CA4268580
NM_004577.4:c.673G>A