ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573084714
Gene: RECQL4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282377
ClinVar RCV Id:
RCV000331183
RCV000814900
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004251.4:p.Gly144Asp
CA4949296
NM_004260.4:c.431G>A