ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3079273183
Gene: CCDC38
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_872302.2:p.Met227Val
CA6726682
NM_182496.3:c.679A>G