ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA097697
Gene: CHN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17553
ClinVar RCV Id:
RCV000019108
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001813.1:p.Ala223Val
CA258037
NM_001822.7:c.668C>T