ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826724660
Gene: RSPH1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000469271
RCV001333455
RCV002526411
ClinVar Variation:
408126
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001273435.1:p.Arg265Gly
CA10043694
NM_001286506.2:c.793A>G