ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825585163
Gene: PHKA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001116142.1:p.Thr576Lys
CA413591838
NM_001122670.2:c.1727C>A