ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645437742
Gene: BSND
HGNC
NCBI
Linked Data
ClinVar Variation Id:
228463
ClinVar RCV Id:
RCV000216940
RCV001273326
RCV001331583
RCV003556280
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476517.1:p.Ala161Val
CA871345
NM_057176.3:c.482C>T