ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828639207
Gene: EPB41
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362955.1:p.Val5Ile
CA724256
NM_001376026.1:c.13G>A