Canonical Allele Identifier: PA645418074
Gene: SPTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 292959
ClinVar RCV Id: RCV000282656 RCV000336545 RCV000374793 RCV001507997
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003117.2:p.Asp1971Asn
CA1182137
NM_003126.2:c.5911G>A