Canonical Allele Identifier: PA645492169
Gene: SMCHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 285654
ClinVar RCV Id: RCV000295797 RCV001855155
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056110.2:p.Leu1257Phe
CA8871292
NM_015295.3:c.3769C>T