ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915991930
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_001165405.1:p.Asn49Ser
CA10576816
NM_001171934.1:c.146A>G