ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100968
Gene: MAN2B1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1687
ClinVar RCV Id:
RCV000001755
RCV000622985
RCV001091771
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000519.2:p.Arg750Trp
CA339901
NM_000528.4:c.2248C>T