Canonical Allele Identifier: PA645491979
Gene: SMCHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 284808
ClinVar RCV Id: RCV000306911 RCV001407288
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056110.2:p.Pro329Thr
CA8870666
NM_015295.3:c.985C>A