ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826673393
Gene: TRPS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269832.1:p.Ser648Leu
CA4851744
NM_001282903.3:c.1943C>T