ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828199478
Gene: PAX4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1448516
ClinVar RCV Id:
RCV002012173
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001353039.1:p.Thr213Met
CA4468016
NM_001366110.1:c.638C>T