ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827445345
Gene: CHD1L
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001335382.1:p.Leu306Pro
CA342203821
NM_001348453.1:c.917T>C