ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573300195
Gene: NACC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1482918
ClinVar RCV Id:
RCV002003040
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_443108.1:p.Ala234Thr
CA404325929
NM_052876.4:c.700G>A