ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827256278
Gene: ZNF48
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161575
ClinVar RCV Id:
RCV000149110
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001311423.1:p.Pro419Ser
CA174377
NM_001324494.2:c.1255C>T