ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826065375
Gene: PHKA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165907.1:p.Leu260Phe
CA10450999
NM_001172436.2:c.778C>T