ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825698665
Gene: BSCL2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
476810
ClinVar RCV Id:
RCV000536990
RCV000789082
RCV001270682
RCV002284966
RCV003311850
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124174.2:p.Ser90Trp
CA380968385
NM_001130702.2:c.269C>G