ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826096330
Gene: CDH23
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000215740
RCV000416514
RCV000755232
RCV001089673
ClinVar Variation:
228500
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165404.1:p.Asn49Ser
CA10576816
NM_001171933.1:c.146A>G