Canonical Allele Identifier: PA1139751920
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 945227
ClinVar RCV Id: RCV001215816

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_116056.3:p.Val66Leu
CA380970194
NM_032667.6:c.196G>T
CA380970196
NM_032667.6:c.196G>C