ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA253031
Gene: SMARCAL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4175
ClinVar RCV Id:
RCV000004392
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_054859.2:p.Arg645Cys
CA253029
NM_014140.4:c.1933C>T