Canonical Allele Identifier: PA645418060
Gene: SPTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 292973
ClinVar RCV Id: RCV000302703 RCV000348129 RCV000395419 RCV001770231
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003117.2:p.Arg1793Gln
CA1182321
NM_003126.2:c.5378G>A