ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827061601
Gene: CHM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1106860
ClinVar RCV Id:
RCV001431718
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307888.1:p.Val21Ile
CA10465567
NM_001320959.1:c.61G>A