ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827194358
Gene: GALNS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
15745
ClinVar RCV:
RCV000000741
ClinVar Variation:
706
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310473.1:p.Arg265Gln
CA251569
NM_001323544.2:c.794G>A