ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825629413
Gene: SMARCAL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
260337
ClinVar RCV Id:
RCV000245623
RCV000389009
RCV001551485
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120679.1:p.Ala43Thr
CA2097561
NM_001127207.2:c.127G>A