Canonical Allele Identifier: PA2573082548
Gene: SPTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1330846
ClinVar RCV Id: RCV001811909
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003117.2:p.Ala2365Glu
CA343011205
NM_003126.2:c.7094C>A
CA2573051398
NM_003126.2:c.7094_7095delinsAG