ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916074360
Gene: ZNF513
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_653232.3:p.Arg250Trp
CA1577980
NM_144631.6:c.748C>T