Canonical Allele Identifier: PA2829061683
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 4544
ClinVar RCV Id: RCV000004803 RCV000235980 RCV000547334 RCV000755016 RCV001270681 RCV001813950 RCV003311647
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001372957.1:p.Ser154Leu
CA116912
NM_001386028.1:c.461C>T