ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA102733
Gene: SMARCAL1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000004391
ClinVar Variation:
4174
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120679.1:p.Ile548Asn
CA253026
NM_001127207.2:c.1643T>A