ClinGen Allele Registry
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Canonical Allele Identifier:
PA117617
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_054831.2:p.Ala932Val
CA117616
NM_014112.4:c.2795C>T