ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573084539
Gene: RECQL4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
212027
ClinVar RCV Id:
RCV000195242
RCV000456938
RCV000764760
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004251.4:p.Ala550Val
CA209922
NM_004260.4:c.1649C>T