Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2741963069

Gene: SAMD9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2577635

ClinVar RCV Id: RCV003324972 RCV004548593

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_060124.2:p.Ala716Thr	CA368192738 NM_017654.4:c.2146G>A