ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827194299
Gene: GALNS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
195588
ClinVar RCV:
RCV000179765
RCV000310050
ClinVar Variation:
198427
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310473.1:p.Arg228Gln
CA247068
NM_001323544.2:c.683G>A