Canonical Allele Identifier: PA645417622
Gene: SPTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 293048
ClinVar RCV Id: RCV000306827 RCV000342017 RCV000393037 RCV000889353
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003117.2:p.Asn265Asp
CA1184034
NM_003126.2:c.793A>G