ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645385815
Gene: RECQL4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004251.3:p.Ser995Thr
CA4947983
NM_004260.3:c.2983T>A