ClinGen Allele Registry
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Canonical Allele Identifier:
PA645417704
Gene: SPTA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
293024
ClinVar RCV Id:
RCV000262342
RCV000322140
RCV000358196
RCV001727670
RCV001701840
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003117.2:p.Arg661His
CA1183557
NM_003126.2:c.1982G>A