ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645492004
Gene: SMCHD1
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_056110.2:p.Gln400Leu
NM_015295.3:c.1199A>T