ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645397672
Gene: GALNS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
377890
ClinVar RCV:
RCV000431100
RCV001861541
RCV002272233
ClinVar Variation:
384194
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000503.1:p.Asn204Ser
CA8235078
NM_000512.5:c.611A>G