ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826673612
Gene: TRPS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1995927
ClinVar RCV Id:
RCV002801665
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269832.1:p.His1243Arg
CA372062064
NM_001282903.3:c.3728A>G