ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827334836
Gene: TRPS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5580
ClinVar RCV Id:
RCV000005922
RCV000557205
RCV002281039
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317528.1:p.Arg952His
CA117620
NM_001330599.2:c.2855G>A