ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658672010
Gene: ADAM17
HGNC
NCBI
Linked Data
ClinVar Variation Id:
472726
ClinVar RCV Id:
RCV000535273
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003174.3:p.Ala748Val
CA1523254
NM_003183.4:c.2243C>T