ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826228070
Gene: CCDC169-SOHLH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3037787
ClinVar RCV Id:
RCV003907285
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001185839.1:p.Thr112Ile
CA6949033
NM_001198910.2:c.335C>T