Canonical Allele Identifier: PA1139719677
Gene: SMCHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 962960
ClinVar RCV Id: RCV001236908 RCV003166470
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056110.2:p.Arg393Gly
CA401697052
NM_015295.3:c.1177A>G