ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580400322
Gene: MBD5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1953292
ClinVar RCV Id:
RCV002700244
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060798.2:p.Ser174Leu
CA348716978
NM_018328.5:c.521C>T