ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826942524
Gene: CHRND
HGNC
NCBI
Linked Data
ClinVar Variation Id:
579131
ClinVar RCV Id:
RCV000702340
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001298125.1:p.Arg275Trp
CA2168271
NM_001311196.2:c.823C>T