ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916044415
Gene: PHKB
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000675928
RCV000764072
RCV003401228
RCV003920034
ClinVar Variation:
281127
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350766.1:p.Gln657Lys
CA8041017
NM_001363837.1:c.1969C>A