ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825604016
Gene: PAX3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000222451
RCV000329028
RCV000383564
RCV000915585
RCV003389463
ClinVar Variation:
226993
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120838.1:p.Pro334Ser
CA2135519
NM_001127366.3:c.1000C>T