Canonical Allele Identifier: PA645491920
Gene: SMCHD1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056110.2:p.Glu136Asp
CA16602279
NM_015295.3:c.408A>C
CA401688216
NM_015295.3:c.408A>T