ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580182095
Gene: PHKG1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245388.1:p.Arg349Trp
CA4270014
NM_001258459.2:c.1045C>T