Allele Registry

Canonical Allele Identifier: PA2741929820

Gene: CHL1 HGNC NCBI

ClinVar RCV:

RCV003979604

ClinVar Variation:

3058988

HGVS (amino-acid)	Matching Registered Transcripts
NP_006605.2:p.Leu17Phe	CA2224186 NM_006614.4:c.49C>T