ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826942572
Gene: CHRND
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2010119
ClinVar RCV Id:
RCV002850956
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001298125.1:p.Lys358Glu
CA351005887
NM_001311196.2:c.1072A>G