ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825569956
Gene: EPB42
HGNC
NCBI
Linked Data
ClinVar Variation Id:
316019
ClinVar RCV Id:
RCV000267602
RCV000889759
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107606.1:p.Gly342Asp
CA7520423
NM_001114134.2:c.1025G>A