Canonical Allele Identifier: PA645491928
Gene: SMCHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 375762
ClinVar RCV Id: RCV000417278
ClinVar Variation Id: 431464
ClinVar RCV Id: RCV000497003
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056110.2:p.Leu141Phe
CA16602277
NM_015295.3:c.423G>C
CA401688335
NM_015295.3:c.423G>T