ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573084877
Gene: RECQL4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
135139
ClinVar RCV Id:
RCV000121940
RCV000466267
RCV001824616
RCV002256068
RCV003237729
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004251.4:p.Arg807His
CA161835
NM_004260.4:c.2420G>A