Canonical Allele Identifier: PA658680901
Gene: SMCHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 448425
ClinVar RCV Id: RCV000517186 RCV000639706 RCV003139714
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056110.2:p.Arg1370Cys
CA295479500
NM_015295.3:c.4108C>T