Canonical Allele Identifier: PA645418039
Gene: SPTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 258940
ClinVar RCV Id: RCV000251009 RCV000303619 RCV000358604 RCV000397152 RCV001507482
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003117.2:p.Gly1497Glu
CA1182673
NM_003126.2:c.4490G>A