ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829024781
Gene: C2CD5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001372260.1:p.Val639Ile
CA384306881
NM_001385331.1:c.1915G>A