ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139711156
Gene: KDELR2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006845.1:p.His12Asp
CA366781726
NM_006854.4:c.34C>G