ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA240672
Gene: SAG
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000532.2:p.Val378Ile
CA240671
NM_000541.5:c.1132G>A