ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499266652
Gene: CHD1L
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004275.4:p.Leu419Pro
CA342203821
NM_004284.6:c.1256T>C