ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA099643
Gene: SBDS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057122.2:p.Arg169Cys
CA342201
NM_016038.2:c.505C>T