ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096213
Gene: BSND
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000004631
RCV001051021
RCV001273324
ClinVar Variation:
4381
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476517.1:p.Arg8Trp
CA116806
NM_057176.3:c.22C>T