Canonical Allele Identifier: PA645491922
Gene: SMCHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 375765
ClinVar RCV Id: RCV000417296 RCV000417337
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056110.2:p.Gly137Glu
CA16602280
NM_015295.3:c.410G>A