ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580167989
Gene: RSPH4A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2347750
ClinVar RCV Id:
RCV004189257
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155136.1:p.Arg354Cys
CA3970887
NM_001161664.2:c.1060C>T