ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830389660
Gene: PAX3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4212
ClinVar RCV Id:
RCV000004432
RCV000004433
RCV003555913
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_852125.1:p.Ser84Phe
CA116691
NM_181460.4:c.251C>T