ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096202
Gene: BSND
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4386
ClinVar RCV Id:
RCV000004636
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476517.1:p.Arg8Leu
CA116810
NM_057176.3:c.23G>T