ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA108681
Gene: SPTA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000013712
RCV000013713
RCV000360212
RCV000787368
ClinVar Variation:
12856
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003117.2:p.Arg28His
CA122759
NM_003126.2:c.83G>A