Canonical Allele Identifier: PA645417913
Gene: SPTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 292994
ClinVar RCV Id: RCV000293245 RCV000350472 RCV000389358 RCV001812777
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003117.2:p.Arg1133Pro
CA1183064
NM_003126.2:c.3398G>C