Canonical Allele Identifier: PA645418158
Gene: SPTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 292937
ClinVar RCV Id: RCV000304881 RCV000355023 RCV000398747 RCV001248301
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003117.2:p.Glu2356Asp
CA1181738
NM_003126.2:c.7068A>C
CA343011373
NM_003126.2:c.7068A>T