ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828638840
Gene: EPB41
HGNC
NCBI
Linked Data
ClinVar Variation Id:
811532
ClinVar RCV Id:
RCV001001476
RCV002068772
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362950.1:p.Val214Ile
CA724256
NM_001376021.1:c.640G>A