Canonical Allele Identifier: PA915980000
Gene: SMCHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 689563
ClinVar RCV Id: RCV000850316
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056110.2:p.Asn391Ser
CA401697008
NM_015295.3:c.1172A>G