Canonical Allele Identifier: PA645418153
Gene: SPTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 292940
ClinVar RCV Id: RCV000276563 RCV000326856 RCV000384468 RCV002522060 RCV004021362
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003117.2:p.Arg2297Trp
CA1181790
NM_003126.2:c.6889C>T