Canonical Allele Identifier: PA645491891
Gene: SMCHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 285126
ClinVar RCV Id: RCV000263109 RCV001089036
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056110.2:p.Asp93Glu
CA8870521
NM_015295.3:c.279T>G
CA401687607
NM_015295.3:c.279T>A