ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828638379
Gene: EPB41
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2974016
ClinVar RCV Id:
RCV003833590
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362945.1:p.Gly173del
CA724239
NM_001376016.1:c.518_520del