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
ENSP00000326603.6:p.Lys383Asn
CA401696870
ENST00000320876.10:c.1149A>C
CA401696877
ENST00000320876.10:c.1149A>T