Canonical Allele Identifier: PA645492106
Gene: SMCHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 286021
ClinVar RCV Id: RCV000321018 RCV000850315 RCV000725767 RCV001859637
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056110.2:p.Ile1070Thr
CA8871151
NM_015295.3:c.3209T>C