ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573282021
Gene: CDH23
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1444877
ClinVar RCV Id:
RCV001956020
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071407.4:p.Ala2130Val
CA377154715
NM_022124.6:c.6389C>T