Canonical Allele Identifier: PA2828488720
Gene: BCS1L HGNC NCBI

Linked Data

ClinVar Variation Id: 1369594
ClinVar RCV Id: RCV001894932 RCV002490047
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001358376.1:p.Gln195His
CA2109699
NM_001371447.1:c.585G>C
CA350627434
NM_001371447.1:c.585G>T