Canonical Allele Identifier: PA2573089368
Gene: SPTBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 422265
ClinVar RCV Id: RCV000482504
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008877.2:p.Asp1499His
CA16619382
NM_006946.4:c.4495G>C