Canonical Allele Identifier: PA2580391323
Gene: SMCHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2436149
ClinVar RCV Id: RCV003136899
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056110.2:p.Arg428Leu
CA401697807
NM_015295.3:c.1283G>T