ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828518122
Gene: SMARCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
470259
ClinVar RCV Id:
RCV000528836
RCV000575000
RCV001809489
RCV003424125
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361386.1:p.Thr596Met
CA9203894
NM_001374457.1:c.1787C>T