ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA221052
Gene: GALNS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
99080
ClinVar RCV:
RCV000079031
RCV001578486
ClinVar Variation:
93173
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000503.1:p.Tyr73Cys
CA221051
NM_000512.5:c.218A>G