Allele Registry

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Canonical Allele Identifier: PA2829061464

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_001372956.1:p.Met222Ile	CA6053495 NM_001386027.1:c.666G>A CA6053496 NM_001386027.1:c.666G>C CA380963196 NM_001386027.1:c.666G>T