ClinGen Allele Registry
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Canonical Allele Identifier:
PA916026878
Gene: GALNS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
377894
ClinVar RCV:
RCV000420201
RCV000633462
RCV002230025
ClinVar Variation:
381663
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310473.1:p.Arg67Trp
CA8235266
NM_001323544.2:c.199C>T