ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA253037
Gene: SMARCAL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4178
ClinVar RCV Id:
RCV000004395
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_054859.2:p.Arg764Gln
CA253035
NM_014140.4:c.2291G>A