Canonical Allele Identifier: PA1139683517
Gene: CHM HGNC NCBI

Linked Data

ClinVar Variation Id: 866702
ClinVar RCV Id: RCV001074936
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000381.1:p.Asn129Asp
CA10465582
NM_000390.4:c.385A>G