ClinGen Allele Registry
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Canonical Allele Identifier:
PA645417613
Gene: SPTA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
293050
ClinVar RCV Id:
RCV000276051
RCV000314713
RCV000368406
RCV000889354
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003117.2:p.Glu227Lys
CA1184056
NM_003126.2:c.679G>A