Canonical Allele Identifier: PA645418159
Gene: SPTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 292936
ClinVar RCV Id: RCV000288553 RCV000348228 RCV000381859 RCV000756704 RCV002465612 RCV004549636
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003117.2:p.Lys2368Asn
CA1181728
NM_003126.2:c.7104G>T
CA343011167
NM_003126.2:c.7104G>C