ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826357018
Gene: CHL1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001240317.1:p.Leu17Phe
CA2224186
NM_001253388.1:c.49C>T