Canonical Allele Identifier: PA2573078506
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 199176
ClinVar RCV Id: RCV000271246 RCV000328674 RCV000657059 RCV001001623 RCV001087807 RCV001847821 RCV002444724
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001372956.1:p.Pro369Leu
CA248240
NM_001386027.1:c.1106C>T