ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829479624
Gene: PAX2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
156301
ClinVar RCV Id:
RCV000144385
RCV000504921
RCV001085420
RCV004544325
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003978.3:p.Ala334Val
CA233182
NM_003987.5:c.1001C>T