ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916077450
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_852126.1:p.Pro335Ser
CA2135519
NM_181461.4:c.1003C>T