ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580401964
Gene: SMG6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060045.4:p.Leu22Val
CA8279313
NM_017575.4:c.64C>G