Canonical Allele Identifier: PA645417824
Gene: SPTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 293002
ClinVar RCV Id: RCV000283271 RCV000340574 RCV000404635 RCV000756701
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003117.2:p.Pro1050Leu
CA1183159
NM_003126.2:c.3149C>T