ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913195492
Gene: PHKA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
634545
ClinVar RCV Id:
RCV000785050
RCV002535715
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000283.1:p.Cys1197Phe
CA412374494
NM_000292.3:c.3590G>T