Canonical Allele Identifier: PA645418033
Gene: SPTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 258938
ClinVar RCV Id: RCV000254479 RCV000273231 RCV000328386 RCV000364331 RCV000755398
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003117.2:p.Leu1485Phe
CA1182681
NM_003126.2:c.4453C>T