ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573300240
Gene: NACC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1547016
ClinVar RCV Id:
RCV002177253
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_443108.1:p.Ala321Thr
CA404327135
NM_052876.4:c.961G>A