ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891864407
Gene: C1R
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001724.4:p.Val50Asp
NM_001733.7:c.149T>A
NM_001733.7:c.149_150delinsAT