Canonical Allele Identifier: PA658802240
Gene: CHM HGNC NCBI

Linked Data

ClinVar Variation Id: 498541
ClinVar RCV Id: RCV000593740
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000381.1:p.Ser145Leu
CA413787195
NM_000390.4:c.434C>T