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Canonical Allele Identifier: Get Identifier
Gene: SMCHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000508422.1:p.Ser318Arg
CA401694715
ENST00000688342.1:c.952A>C
CA401694730
ENST00000688342.1:c.954C>A
CA401694732
ENST00000688342.1:c.954C>G