ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828756641
Gene: MBL2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14352
ClinVar RCV Id:
RCV000015426
RCV000991134
RCV002274881
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365302.1:p.Arg52Cys
CA123885
NM_001378373.1:c.154C>T