ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA123888
Gene: MBL2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000233.1:p.Arg52Cys
NM_000242.3:c.154C>T