ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111846
Gene: CASQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
862119
ClinVar RCV Id:
RCV002505654
RCV002554554
RCV003339457
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001223.2:p.Arg33Gln
CA1023999
NM_001232.4:c.98G>A