ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645422980
Gene: PHKA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002628.2:p.Asp698Asn
CA16621500
NM_002637.4:c.2092G>A