ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825698894
Gene: BSCL2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
543290
ClinVar RCV Id:
RCV000654025
RCV001331509
RCV002369759
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124174.2:p.Arg256His
CA6053327
NM_001130702.2:c.767G>A