Canonical Allele Identifier: PA2825698790
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 246574
ClinVar RCV Id: RCV000236915 RCV000269156 RCV000366070 RCV001086940 RCV002347931
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001124174.2:p.Ala185Thr
CA6053484
NM_001130702.2:c.553G>A