ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA098646
Gene: GALNS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
265169
ClinVar RCV Id:
RCV000255770
RCV000701162
RCV004017572
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000503.1:p.Ser287Leu
CA8234955
NM_000512.5:c.860C>T