ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828082726
Gene: HGSNAT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
363147
ClinVar RCV Id:
RCV000346177
RCV001256203
RCV001196774
RCV001240733
RCV001584092
RCV002523685
RCV001700100
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350157.1:p.Pro349Ser
CA4736810
NM_001363228.2:c.1045C>T