This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: SMCHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000508422.1:p.Met399Ile
CA401697203
ENST00000688342.1:c.1197G>A
CA401697204
ENST00000688342.1:c.1197G>C
CA401697207
ENST00000688342.1:c.1197G>T