Canonical Allele Identifier: PA2580244102
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1769343
ClinVar RCV Id: RCV002380781
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001372957.1:p.Asp68Glu
CA380970817
NM_001386028.1:c.204C>G
CA380970818
NM_001386028.1:c.204C>A