ClinGen Allele Registry
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Canonical Allele Identifier:
PA915993214
Gene: MAN2B1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
808457
ClinVar RCV Id:
RCV000996766
RCV002549949
RCV002549950
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166969.1:p.Pro60Leu
CA9226883
NM_001173498.2:c.179C>T