ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830389198
Gene: PAX3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
334559
ClinVar RCV Id:
RCV000288552
RCV000382870
RCV001195199
RCV001375455
RCV001545472
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_852123.1:p.Pro373Leu
CA2135497
NM_181458.4:c.1118C>T