Canonical Allele Identifier: PA116914
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_001124174.2:p.Ser90Leu
CA116912
NM_001130702.2:c.269C>T