ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826673075
Gene: TRPS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5578
ClinVar RCV Id:
RCV000005920
RCV000505309
RCV001212523
RCV001091702
RCV001849257
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269831.1:p.Ala923Val
CA117616
NM_001282902.3:c.2768C>T