ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658665912
Gene: NMNAT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
464670
ClinVar RCV Id:
RCV000538650
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_073624.2:p.Leu239Ser
CA579318
NM_022787.4:c.716T>C