ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916044432
Gene: PHKB
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000429403
RCV000675933
RCV001086758
ClinVar Variation:
319360
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350766.1:p.Arg1041Trp
CA8041433
NM_001363837.1:c.3121C>T