ClinGen Allele Registry
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Canonical Allele Identifier:
PA098082
Gene: GALNS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
15747
ClinVar RCV:
RCV000000743
RCV000781400
RCV000790840
ClinVar Variation:
708
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000503.1:p.Gly301Cys
CA221063
NM_000512.5:c.901G>T