ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829480384
Gene: PAX2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1930128
ClinVar RCV Id:
RCV002618834
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003981.3:p.Asp35His
CA213063352
NM_003990.5:c.103G>C