ClinGen Allele Registry
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Canonical Allele Identifier:
PA098395
Gene: GALNS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
99069
ClinVar RCV:
RCV000174006
RCV001201184
RCV001389836
ClinVar Variation:
93162
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000503.1:p.Met391Val
CA221041
NM_000512.5:c.1171A>G