ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA097545
Gene: GALNS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001578288
RCV003331129
ClinVar Variation:
1048185
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000503.1:p.Ala107Thr
CA8235214
NM_000512.5:c.319G>A