ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645498604
Gene: CDH23
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000454137
RCV002522743
RCV003476019
ClinVar Variation:
402248
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071407.4:p.Glu1917Lys
CA16609572
NM_022124.6:c.5749G>A