Canonical Allele Identifier: PA2829061657
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 945227
ClinVar RCV Id: RCV001215816
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001372957.1:p.Val130Leu
CA380970194
NM_001386028.1:c.388G>T
CA380970196
NM_001386028.1:c.388G>C