ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA098232
Gene: GALNS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
703
ClinVar RCV Id:
RCV000000738
RCV000295527
RCV000723431
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000503.1:p.Ile113Phe
CA339830
NM_000512.5:c.337A>T