ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580368192
Gene: TRPS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_054831.2:p.Glu691Lys
CA372065987
NM_014112.4:c.2071G>A