Canonical Allele Identifier: PA2580115287
Gene: CHM HGNC NCBI

Linked Data

ClinVar Variation Id: 2418593
ClinVar RCV Id: RCV003121342
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000381.1:p.Pro376Ala
CA413784888
NM_000390.4:c.1126C>G