ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825356650
Gene: PHKB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
522767
ClinVar RCV Id:
RCV000625928
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001027005.1:p.Thr61Ile
CA396098603
NM_001031835.3:c.182C>T