Canonical Allele Identifier: PA2573089312
Gene: SPTBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 5275
ClinVar RCV Id: RCV000005593 RCV001682706
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008877.2:p.Leu253Pro
CA253456
NM_006946.4:c.758T>C