Canonical Allele Identifier: PA2829061508
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2957028
ClinVar RCV Id: RCV003818715
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001372956.1:p.Arg279His
CA6053440
NM_001386027.1:c.836G>A