ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828082653
Gene: HGSNAT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1237
ClinVar RCV Id:
RCV000001296
RCV000799182
RCV001030801
RCV001699017
RCV003114169
RCV003887846
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350157.1:p.Arg280Cys
CA114871
NM_001363228.2:c.838C>T