Canonical Allele Identifier: PA2825154493
Gene: CHM HGNC NCBI

Linked Data

ClinVar Variation Id: 1168390
ClinVar Variation Id: 2784015
ClinVar RCV Id: RCV003660115

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000381.1:p.Met149Ile
CA10465575
NM_000390.4:c.447G>T
CA332655374
NM_000390.4:c.447G>A
CA413787167
NM_000390.4:c.447G>C