ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829480140
Gene: PAX2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13805
ClinVar RCV Id:
RCV000014816
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003980.3:p.Arg71Thr
CA123481
NM_003989.5:c.212G>C