ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573300249
Gene: NACC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1393113
ClinVar RCV Id:
RCV001896565
RCV003134201
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_443108.1:p.Arg335Trp
CA404327290
NM_052876.4:c.1003C>T