ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA245164
Gene: RSPH4A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
197172
ClinVar RCV Id:
RCV000242421
RCV000543028
RCV000724046
RCV001155427
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001010892.1:p.Glu570Gln
CA245163
NM_001010892.3:c.1708G>C