ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA092780
Gene: RS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000321.1:p.Gly74Val
NM_000330.3:c.221G>T