Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
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Canonical Allele Identifier: PA2830087529

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_116056.3:p.Met158Ile	CA6053495 NM_032667.6:c.474G>A CA6053496 NM_032667.6:c.474G>C CA380963196 NM_032667.6:c.474G>T