ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829134078
Gene: CHURC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373857.1:p.Arg106Gln
CA7231751
NM_001386928.1:c.317G>A