ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA116813
Gene: BSND
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476517.1:p.Ile12Thr
CA116812
NM_057176.3:c.35T>C