ClinGen Allele Registry
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Canonical Allele Identifier:
PA658808289
Gene: SPTA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
544820
ClinVar RCV Id:
RCV000655917
RCV001099974
RCV001099973
RCV001099975
RCV002534241
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003117.2:p.Arg563Gln
CA1183648
NM_003126.2:c.1688G>A