ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829354730
Gene: MASP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001870.3:p.Thr379Ile
CA2749345
NM_001879.6:c.1136C>T