ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830388889
Gene: PAX3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2442649
ClinVar RCV Id:
RCV003149421
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_852122.1:p.Met460Val
CA351115501
NM_181457.4:c.1378A>G