ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658666431
Gene: CHRND
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000538556
RCV001357055
ClinVar Variation:
466196
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000742.1:p.Arg243His
CA2168126
NM_000751.2:c.728G>A