ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA098240
Gene: GALNS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
321191
ClinVar RCV Id:
RCV000331371
RCV000894656
RCV003235192
RCV003480600
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000503.1:p.Ile416Thr
CA8234741
NM_000512.5:c.1247T>C