ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580219776
Gene: PHKB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1924320
ClinVar RCV Id:
RCV002609541
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350766.1:p.Arg630Trp
CA8041007
NM_001363837.1:c.1888C>T