ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645422420
Gene: SMC1A
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_006297.2:p.Met1125Val
NM_006306.4:c.3373A>G