ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580286835
Gene: SPTA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2436331
ClinVar RCV Id:
RCV003138668
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003117.2:p.Glu2374del
CA1008229116
NM_003126.2:c.7122_7124del