ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139750202
Gene: SMARCD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
986177
ClinVar RCV Id:
RCV001267454
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_620710.2:p.Arg50Gly
CA236743270
NM_139071.3:c.148C>G