Canonical Allele Identifier: PA2825698771
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 806686
ClinVar RCV Id: RCV000994648 RCV001337734 RCV002327221
ClinVar Variation Id: 2087066
ClinVar RCV Id: RCV003017757
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124174.2:p.Met158Ile
CA6053495
NM_001130702.2:c.474G>A
CA6053496
NM_001130702.2:c.474G>C
CA380963196
NM_001130702.2:c.474G>T