Canonical Allele Identifier: PA645417833
Gene: SPTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 293000
ClinVar RCV Id: RCV000293726 RCV000318294 RCV000375346 RCV003765706
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003117.2:p.Arg1056Cys
CA1183156
NM_003126.2:c.3166C>T