Canonical Allele Identifier: PA645417918
Gene: SPTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 292991
ClinVar RCV Id: RCV000291374 RCV000340503 RCV000383387 RCV002519402
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003117.2:p.Val1233Ile
CA1182969
NM_003126.2:c.3697G>A