ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580104457
Gene: EPB42
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000110.2:p.Arg457His
CA7520372
NM_000119.3:c.1370G>A