ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573090348
Gene: TRPS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1302205
ClinVar RCV Id:
RCV001754094
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_054831.2:p.Gly1234Asp
CA372062177
NM_014112.4:c.3701G>A