ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580115270
Gene: CHM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2146729
ClinVar RCV Id:
RCV003067275
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000381.1:p.Thr141Ala
CA10465580
NM_000390.4:c.421A>G