ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827193951
Gene: GALNS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
523005
ClinVar RCV Id:
RCV000626204
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310472.1:p.Met133Val
CA397101204
NM_001323543.2:c.397A>G