ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580455725
Gene: SYNDIG1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079169.1:p.Pro76Ala
CA9791751
NM_024893.3:c.226C>G