ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827334919
Gene: TRPS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
944504
ClinVar RCV Id:
RCV001214916
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317528.1:p.His1233Tyr
CA372062099
NM_001330599.2:c.3697C>T