ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829547626
Gene: EPB41
HGNC
NCBI
Linked Data
ClinVar Variation Id:
811532
ClinVar RCV Id:
RCV001001476
RCV002068772
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004428.1:p.Val5Ile
CA724256
NM_004437.4:c.13G>A