ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139727860
Gene: RSPH3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
646621
ClinVar RCV Id:
RCV000800947
RCV004028044
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333347.1:p.Ile330Thr
CA4075798
NM_001346418.1:c.989T>C