Canonical Allele Identifier: PA645491993
Gene: SMCHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 287026
ClinVar RCV Id: RCV000314794 RCV001225059 RCV003165749
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056110.2:p.Ala347Thr
CA8870673
NM_015295.3:c.1039G>A