ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573274560
Gene: MBD5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1406590
ClinVar RCV Id:
RCV001935476
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060798.2:p.Pro187His
CA348717065
NM_018328.5:c.560C>A