ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580387411
Gene: SPEN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1800857
ClinVar RCV Id:
RCV002462454
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055816.2:p.Ser1485Cys
CA338614602
NM_015001.3:c.4454C>G