ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913199250
Gene: TRPS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_054831.2:p.Pro617Ser
CA4851764
NM_014112.4:c.1849C>T