ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA253028
Gene: SMARCAL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4174
ClinVar RCV Id:
RCV000004391
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_054859.2:p.Ile548Asn
CA253026
NM_014140.4:c.1643T>A