Canonical Allele Identifier: PA645492239
Gene: SMCHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 285312
ClinVar RCV Id: RCV000275554 RCV001342182 RCV003278737
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056110.2:p.His1675Arg
CA8871640
NM_015295.3:c.5024A>G