ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA110494
Gene: CHRND
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000020031
RCV001218475
ClinVar Variation:
18363
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000742.1:p.Ser289Phe
CA128062
NM_000751.2:c.866C>T