Canonical Allele Identifier: PA645492268
Gene: SMCHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 260653
ClinVar RCV Id: RCV000251991 RCV000726283 RCV001854965
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056110.2:p.Ser1709Leu
CA8871665
NM_015295.3:c.5126C>T