ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658675322
Gene: RSPH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
454952
ClinVar RCV Id:
RCV000550740
RCV002525273
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_543136.1:p.Met262Thr
CA10043746
NM_080860.4:c.785T>C