Canonical Allele Identifier: PA2499257353
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 430032
ClinVar RCV Id: RCV000494386 RCV001070223
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001372957.1:p.Phe228del
CA645369504
NM_001386028.1:c.683_685del