ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891866480
Gene: PAX4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
358808
ClinVar RCV Id:
RCV000308773
RCV002488799
RCV001672685
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001353039.1:p.Arg39Gln
CA4468227
NM_001366110.1:c.116G>A