ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139756763
Gene: RECQL
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_116559.1:p.Ala248Thr
CA6478980
NM_032941.3:c.742G>A