ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826401431
Gene: CHRND
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000352373
RCV000808385
RCV003144223
ClinVar Variation:
334968
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243586.1:p.Arg283His
CA2168184
NM_001256657.2:c.848G>A