ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580129656
Gene: CHRND
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2418687
ClinVar RCV Id:
RCV003121436
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000742.1:p.Arg413Leu
CA351005321
NM_000751.2:c.1238G>T