Canonical Allele Identifier: PA2573084770
Gene: RECQL4 HGNC NCBI

Linked Data

ClinVar Variation Id: 582640
ClinVar RCV Id: RCV000706763 RCV001560003 RCV003372830
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004251.4:p.Arg248His
CA4949191
NM_004260.4:c.743G>A
CA2832529072
NM_004260.4:c.738_743delinsTATCCA