Canonical Allele Identifier: PA645491973
Gene: SMCHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 431465
ClinVar RCV Id: RCV000497014 RCV000497007
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056110.2:p.Phe171Val
CA401689909
NM_015295.3:c.511T>G