ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573084556
Gene: RECQL4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406954
ClinVar RCV Id:
RCV000471066
RCV002284394
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004251.4:p.Ala1194Thr
CA4947637
NM_004260.4:c.3580G>A