ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828119826
Gene: PHKB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350766.1:p.Arg567Cys
CA8040939
NM_001363837.1:c.1699C>T