ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645491894
Gene: SMCHD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056110.2:p.Leu107Pro
CA401687840
NM_015295.3:c.320T>C