ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825603964
Gene: PAX3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1695782
ClinVar RCV Id:
RCV002265417
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120838.1:p.Pro243His
CA351112345
NM_001127366.3:c.728C>A