Canonical Allele Identifier: PA2580115267
Gene: CHM HGNC NCBI

Linked Data

ClinVar Variation Id: 2182432
ClinVar RCV Id: RCV002610845
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000381.1:p.Ala117Val
CA10465588
NM_000390.4:c.350C>T
CA2580102041
NM_000390.4:c.350_351delinsTG