Canonical Allele Identifier: PA645417911
Gene: SPTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 393151
ClinVar RCV Id: RCV000443048 RCV001099386 RCV001099387 RCV001101374
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003117.2:p.Lys1119Asn
CA1183091
NM_003126.2:c.3357G>C
CA343037247
NM_003126.2:c.3357G>T