ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139712965
Gene: RECQL4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
843826
ClinVar RCV Id:
RCV001046527
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004251.4:p.Arg482Ser
CA372684748
NM_004260.4:c.1444C>A