ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573092007
Gene: CHD5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056372.1:p.Ser973Phe
CA17161940
NM_015557.3:c.2918C>T