ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827449198
Gene: SAP25
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2298443
ClinVar RCV Id:
RCV004147604
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001335606.1:p.Arg126His
CA368522884
NM_001348677.2:c.377G>A