ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139743112
Gene: CHN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17556
ClinVar RCV Id:
RCV000019111
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358443.1:p.Glu330Lys
CA258040
NM_001371514.1:c.988G>A