ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139736344
Gene: SMARCAL1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_054859.2:p.Pro480Leu
CA2097883
NM_014140.4:c.1439C>T