ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA103015
Gene: CHM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
39809
ClinVar RCV Id:
RCV000033030
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000381.1:p.His507Arg
CA261228
NM_000390.4:c.1520A>G