Canonical Allele Identifier: PA2573267245
Gene: SMCHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1400963
ClinVar RCV Id: RCV001932856
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056110.2:p.Pro387Leu
CA8870702
NM_015295.3:c.1160C>T