ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580400370
Gene: MBD5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060798.2:p.Pro272Ser
CA348717779
NM_018328.5:c.814C>T