ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828371763
Gene: PJVK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356841.1:p.Arg183Gln
CA1984215
NM_001369912.1:c.548G>A