ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830389810
Gene: PAX3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
226993
ClinVar RCV Id:
RCV000222451
RCV000329028
RCV000383564
RCV000915585
RCV003389463
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_852125.1:p.Pro335Ser
CA2135519
NM_181460.4:c.1003C>T