ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915993268
Gene: MAN2B1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
93218
ClinVar RCV Id:
RCV000079081
RCV000355741
RCV000675485
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166969.1:p.Thr312Ile
CA146749
NM_001173498.2:c.935C>T