Canonical Allele Identifier: PA658680895
Gene: SMCHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 446476
ClinVar RCV Id: RCV000515687
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056110.2:p.Gly1227Arg
CA401689493
NM_015295.3:c.3679G>C