Allele Registry

Canonical Allele Identifier: PA116908

Gene: BHLHE41 HGNC NCBI

ClinVar RCV:

RCV000004788

ClinVar Variation:

4530

HGVS (amino-acid)	Matching Registered Transcripts
NP_110389.1:p.Pro384Arg	CA116907 NM_030762.2:c.1151C>G