ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830389063
Gene: PAX3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
504786
ClinVar RCV Id:
RCV000606544
RCV000765614
RCV001139117
RCV001139116
RCV001770539
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_852123.1:p.Glu194Lys
CA2135687
NM_181458.4:c.580G>A