ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915993252
Gene: MAN2B1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001166969.1:p.Arg229Trp
NM_001173498.2:c.685C>T