Canonical Allele Identifier: PA239676
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 193938
ClinVar RCV Id: RCV000445495 RCV000724332 RCV001086117 RCV001847805 RCV002326952 RCV003884374
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_116056.3:p.Arg392His
CA239675
NM_032667.6:c.1175G>A