ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825340552
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_001020372.2:p.Ala197Val
CA258037
NM_001025201.4:c.590C>T