Canonical Allele Identifier: PA116910
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 4543
ClinVar RCV Id: RCV000004802 RCV000004801 RCV000168078 RCV000340485 RCV000507071 RCV001270680 RCV001813949 RCV001847582 RCV002426488 RCV003311646
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001116427.1:p.Asn152Ser
CA116909
NM_001122955.4:c.455A>G