ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825603846
Gene: PAX3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000004432
RCV000004433
RCV003555913
ClinVar Variation:
4212
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120838.1:p.Ser84Phe
CA116691
NM_001127366.3:c.251C>T