Canonical Allele Identifier: PA645418061
Gene: SPTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 292971
ClinVar RCV Id: RCV000281691 RCV000336491 RCV000405152 RCV003480580
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003117.2:p.Leu1804Phe
CA1182314
NM_003126.2:c.5410C>T