Canonical Allele Identifier: PA2829061756
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 220174
ClinVar RCV Id: RCV000205813 RCV002444827 RCV003441784 RCV003448287
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001372957.1:p.Arg350Gln
CA349931
NM_001386028.1:c.1049G>A