ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA138598
Gene: BSND
HGNC
NCBI
Linked Data
ClinVar Variation Id:
46545
ClinVar RCV Id:
RCV000039815
RCV000288895
RCV000710755
RCV001273325
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476517.1:p.Val43Ile
CA138597
NM_057176.3:c.127G>A