ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580115271
Gene: CHM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2071692
ClinVar RCV Id:
RCV002975782
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000381.1:p.Glu144Gly
CA413787204
NM_000390.4:c.431A>G