Canonical Allele Identifier: PA108814
Gene: SPTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12857
ClinVar RCV Id: RCV000013714 RCV000013715 RCV001509084
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003117.2:p.Leu207Pro
CA122760
NM_003126.2:c.620T>C