ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139761786
Gene: CDHR1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149091.1:p.Thr229Ile
CA5579643
NM_033100.4:c.686C>T