ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580326836
Gene: SPEG
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1976904
ClinVar RCV Id:
RCV002736364
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005867.3:p.Val2766Phe
CA350708825
NM_005876.5:c.8296G>T