ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891866498
Gene: PAX4
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000445523
RCV000998902
RCV001821215
RCV003932698
ClinVar Variation:
393408
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001353039.1:p.Pro311Leu
CA4467858
NM_001366110.1:c.932C>T