Canonical Allele Identifier: PA2829061474
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 246574
ClinVar RCV Id: RCV000236915 RCV000269156 RCV000366070 RCV001086940 RCV002347931
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001372956.1:p.Ala249Thr
CA6053484
NM_001386027.1:c.745G>A