ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573085392
Gene: RECQL4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004251.4:p.Val678Met
CA4948539
NM_004260.4:c.2032G>A