ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825569930
Gene: EPB42
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107606.1:p.Arg194His
CA7520576
NM_001114134.2:c.581G>A