ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830389538
Gene: PAX3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000222451
RCV000329028
RCV000383564
RCV000915585
RCV003389463
ClinVar Variation:
226993
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_852124.1:p.Pro335Ser
CA2135519
NM_181459.4:c.1003C>T