ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499231247
Gene: RS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1058685
ClinVar RCV Id:
RCV001367851
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000321.1:p.Leu127Met
CA412372155
NM_000330.3:c.379C>A