ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA117611
Gene: TRPS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_054831.2:p.Thr914Pro
CA117610
NM_014112.4:c.2740A>C