ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828638663
Gene: EPB41
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1302938
ClinVar RCV Id:
RCV001756437
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362948.1:p.Cys212Tyr
CA724254
NM_001376019.1:c.635G>A