ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580301934
Gene: RECQL4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2418101
ClinVar RCV Id:
RCV003118210
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004251.4:p.Pro483Leu
CA372684727
NM_004260.4:c.1448C>T