ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA271464
Gene: EBP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
158541
ClinVar RCV Id:
RCV000145933
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006570.1:p.Tyr104His
CA271463
NM_006579.3:c.310T>C