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Canonical Allele Identifier: Get Identifier
Gene: SMCHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000326603.7:p.[Arg428_Leu433delinsValIleIleHisSer;Asp435_Arg436delinsMetIle;Thr438_Lys448delinsLysLeuThr;Lys450_Asp457delinsMetIleHisAlaPheHisGlnAsn]
CA2573155048
ENST00000320876.11:c.1282del