ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA092496
Gene: RS1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000085341
RCV001074817
RCV001353041
ClinVar Variation:
99000
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000321.1:p.Arg200Cys
CA226806
NM_000330.3:c.598C>T