ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096237
Gene: PJVK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1297
ClinVar RCV Id:
RCV000001360
RCV001268818
RCV001813933
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036167.1:p.Arg183Trp
CA251743
NM_001042702.5:c.547C>T