ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499297376
Gene: MASP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_624302.1:p.Pro241Leu
CA2749549
NM_139125.4:c.722C>T