ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573085092
Gene: RECQL4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
259258
ClinVar RCV Id:
RCV000246127
RCV001261854
RCV002518628
RCV002518629
RCV002257617
RCV002262889
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004251.4:p.Ser523Thr
CA4948798
NM_004260.4:c.1568G>C