ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829479391
Gene: PAX2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2098640
ClinVar RCV Id:
RCV003019241
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003978.3:p.Val65Ala
CA378257726
NM_003987.5:c.194T>C