ClinGen Allele Registry
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Canonical Allele Identifier:
PA645418059
Gene: SPTA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
292976
ClinVar RCV Id:
RCV000291032
RCV000340130
RCV000376040
RCV002522062
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003117.2:p.Val1698Ala
CA1182426
NM_003126.2:c.5093T>C