ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658800982
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_000742.1:p.Arg376Gln
CA2168272
NM_000751.2:c.1127G>A