ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827061718
Gene: CHM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2085950
ClinVar RCV Id:
RCV003005367
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307888.1:p.Lys211Gln
CA413785078
NM_001320959.1:c.631A>C