ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499233719
Gene: C7
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000578.2:p.Ala484Val
CA3249968
NM_000587.4:c.1451C>T