Canonical Allele Identifier: PA645418065
Gene: SPTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 258948
ClinVar RCV Id: RCV000247499 RCV000304497 RCV000361633 RCV000395775 RCV001003794 RCV001731550
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003117.2:p.Leu1858Val
CA1182251
NM_003126.2:c.5572C>G