ClinGen Allele Registry
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Canonical Allele Identifier:
PA916026899
Gene: GALNS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
15748
ClinVar RCV:
RCV000000744
RCV000723452
ClinVar Variation:
709
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310473.1:p.Ser168Phe
CA251571
NM_001323544.2:c.503C>T