Canonical Allele Identifier: PA645417923
Gene: SPTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 292990
ClinVar RCV Id: RCV000283192 RCV000324353 RCV000378980 RCV002261033 RCV004021365
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003117.2:p.Arg1277Cys
CA1182923
NM_003126.2:c.3829C>T