ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827334810
Gene: TRPS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5577
ClinVar RCV Id:
RCV000005919
RCV000505300
RCV000706380
RCV001781190
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317528.1:p.Arg908Gln
CA117614
NM_001330599.2:c.2723G>A