ClinGen Allele Registry
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Canonical Allele Identifier:
PA916026885
Gene: GALNS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
512232
ClinVar RCV:
RCV000624508
RCV000763388
RCV003128664
ClinVar Variation:
520618
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310473.1:p.Arg96Trp
CA286406375
NM_001323544.2:c.286C>T