ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA098372
Gene: GALNS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
199031
ClinVar RCV Id:
RCV000180514
RCV000624404
RCV001193735
RCV001389837
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000503.1:p.Met318Arg
CA275446
NM_000512.5:c.953T>G