ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499274372
Gene: EBP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1019011
ClinVar RCV Id:
RCV001318387
RCV002543749
RCV003953658
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006570.1:p.Gly114Val
CA10403025
NM_006579.3:c.341G>T