ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645425827
Gene: MBL2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000233.1:p.Pro101Leu
CA5504378
NM_000242.3:c.302C>T