Canonical Allele Identifier: PA2830087640
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 305178
ClinVar RCV Id: RCV000335926 RCV000399378 RCV000866662 RCV001089069 RCV002365352
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_116056.3:p.Gly211Arg
CA6053444
NM_032667.6:c.631G>A
CA380962073
NM_032667.6:c.631G>C