ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826673513
Gene: TRPS1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000005920
RCV000505309
RCV001091702
RCV001212523
RCV001849257
ClinVar Variation:
5578
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269832.1:p.Ala925Val
CA117616
NM_001282903.3:c.2774C>T