ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096255
Gene: PJVK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036167.1:p.Thr54Ile
CA251744
NM_001042702.5:c.161C>T