Canonical Allele Identifier: PA1139683480
Gene: CHM HGNC NCBI

Linked Data

ClinVar Variation Id: 967667
ClinVar RCV Id: RCV001242636 RCV001828998 RCV002564036
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000381.1:p.Leu118Val
CA413787374
NM_000390.4:c.352C>G