ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139710243
Gene: RECQL4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004251.3:p.Val530dup
CA4948792
NM_004260.3:c.1588_1590dup