ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829401918
Gene: RECQL
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002898.2:p.Thr639Lys
CA6478587
NM_002907.4:c.1916C>A