Canonical Allele Identifier: PA266198
Gene: SMCHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 88705
ClinVar RCV Id: RCV000074384
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056110.2:p.Thr527Met
CA266197
NM_015295.3:c.1580C>T