Canonical Allele Identifier: PA2830087569
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 246574
ClinVar RCV Id: RCV000236915 RCV000269156 RCV000366070 RCV001086940 RCV002347931
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_116056.3:p.Ala185Thr
CA6053484
NM_032667.6:c.553G>A