ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825630015
Gene: SMARCAL1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120679.1:p.Arg561His
CA2097962
NM_001127207.2:c.1682G>A