ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573232086
Gene: RECQL4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1380755
ClinVar RCV Id:
RCV001895042
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004251.4:p.Leu41Phe
CA4949479
NM_004260.4:c.121C>T