ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830069941
Gene: RSPH3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
574980
ClinVar RCV Id:
RCV000697056
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114130.4:p.Ser387Leu
CA366278713
NM_031924.8:c.1160C>T