Canonical Allele Identifier: PA2828062464
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_001349447.1:p.Met1Ile
CA10465575
NM_001362518.1:c.3G>T
CA332655374
NM_001362518.1:c.3G>A
CA413787167
NM_001362518.1:c.3G>C