Canonical Allele Identifier: PA645386273
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 246599
ClinVar RCV Id: RCV000236421 RCV000280085 RCV000342082 RCV001080694 RCV002450739
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_116056.3:p.Val86Ile
CA6053569
NM_032667.6:c.256G>A