ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828062504
Gene: CHM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
796016
ClinVar RCV Id:
RCV000979375
RCV001832267
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349447.1:p.Thr59Ala
CA10465556
NM_001362518.1:c.175A>G