Canonical Allele Identifier: PA248241
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_116056.3:p.Pro303Leu
CA248240
NM_032667.6:c.908C>T