ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916077444
Gene: PAX3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
218940
ClinVar RCV Id:
RCV000203286
RCV000213796
RCV000293967
RCV000348942
RCV000626405
RCV000992502
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_852126.1:p.Thr315Lys
CA339658
NM_181461.4:c.944C>A