ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2742013365
Gene: SIAE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2988291
ClinVar RCV Id:
RCV003844474
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_733746.1:p.Ala416Val
CA383144273
NM_170601.5:c.1247C>T