ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827193976
Gene: GALNS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
342903
ClinVar RCV:
RCV000280847
RCV000675534
ClinVar Variation:
321198
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310472.1:p.Gln149Arg
CA8234879
NM_001323543.2:c.446A>G