ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100954
Gene: MAN2B1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000519.2:p.Arg229Trp
NM_000528.4:c.685C>T