Canonical Allele Identifier: PA2828489229
Gene: BCS1L HGNC NCBI

Linked Data

ClinVar Variation Id: 1120065
ClinVar RCV Id: RCV001449705 RCV001832578 RCV002476767
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001358378.1:p.Ser65Arg
CA2109617
NM_001371449.1:c.193A>C
CA350625828
NM_001371449.1:c.195C>A
CA350625829
NM_001371449.1:c.195C>G