ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826433029
Gene: PAX1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1419768
ClinVar RCV Id:
RCV001910604
RCV002471186
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244025.1:p.Pro392Arg
CA9786710
NM_001257096.2:c.1175C>G