ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139712401
Gene: SMARCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
954832
ClinVar RCV Id:
RCV001227359
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003063.2:p.Ser17Phe
CA404053992
NM_003072.5:c.50C>T