ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658828076
Gene: SMC1A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006297.2:p.Arg807His
CA413250889
NM_006306.4:c.2420G>A