ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139727847
Gene: RSPH3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
568995
ClinVar RCV Id:
RCV000689518
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333347.1:p.Ala310Val
CA4075810
NM_001346418.1:c.929C>T