ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA253025
Gene: SMARCAL1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_054859.2:p.Gln34Ter
NM_014140.4:c.100C>T