ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828082794
Gene: HGSNAT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1234
ClinVar RCV Id:
RCV000001293
RCV001378638
RCV003323346
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350157.1:p.Met418Lys
CA114867
NM_001363228.2:c.1253T>A