ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826942269
Gene: CHRND
HGNC
NCBI
Linked Data
ClinVar Variation Id:
534533
ClinVar RCV Id:
RCV000642118
RCV000731206
RCV001138498
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001298124.1:p.Arg182Gln
CA2168272
NM_001311195.2:c.545G>A