ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139753052
Gene: GNAT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
930996
ClinVar RCV Id:
RCV001197099
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_653082.1:p.Leu87Phe
CA352913797
NM_144499.3:c.259C>T