ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741941212
Gene: TRPS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_054831.2:p.Pro1138Leu
CA184469557
NM_014112.4:c.3413C>T