ClinGen Allele Registry
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Canonical Allele Identifier:
PA097614
Gene: GALNS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
99070
ClinVar RCV:
RCV000174007
RCV001578422
ClinVar Variation:
93163
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000503.1:p.Ala392Val
CA221042
NM_000512.5:c.1175C>T