ClinGen Allele Registry
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Canonical Allele Identifier:
PA3057576199
Gene: SMARCD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_620710.2:p.Arg462del
CA3057286627
NM_139071.3:c.1385_1387del