ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916044385
Gene: PHKB
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001350766.1:p.Ala118Pro
NM_001363837.1:c.352G>C