Canonical Allele Identifier: PA645418084
Gene: SPTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 292955
ClinVar RCV Id: RCV000269191 RCV000326541 RCV000383425 RCV003718149
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003117.2:p.Ile2078Asn
CA1182042
NM_003126.2:c.6233T>A