ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100876
Gene: EPB42
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13233
ClinVar RCV Id:
RCV000014138
RCV003415697
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107606.1:p.Ala112Thr
CA341253
NM_001114134.2:c.334G>A