ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580521444
Gene: BHLHE22
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689627.1:p.Leu321Val
CA371338175
NM_152414.5:c.961C>G