ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA236349
Gene: EBP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000145943
RCV000171436
RCV000439113
RCV003905265
ClinVar Variation:
158551
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006570.1:p.Arg171Cys
CA236348
NM_006579.3:c.511C>T