ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916043672
Gene: HGSNAT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1238
ClinVar RCV Id:
RCV000001297
RCV001723529
RCV001851534
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350156.1:p.Ser547Phe
CA114873
NM_001363227.2:c.1640C>T