ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573084611
Gene: RECQL4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
239783
ClinVar RCV Id:
RCV000229996
RCV002255336
RCV003129815
RCV004532905
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004251.4:p.Ala273Thr
CA4949170
NM_004260.4:c.817G>A