ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891854400
Gene: RECQL4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004251.3:p.Leu493Pro
CA372684498
NM_004260.3:c.1478T>C