ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741999689
Gene: NACC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3029286
ClinVar RCV Id:
RCV004548776
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_443108.1:p.Gly116Cys
CA404325169
NM_052876.4:c.346G>T