ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA301915
Gene: CASQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
190748
ClinVar RCV Id:
RCV000170896
RCV003525867
RCV003343668
RCV002415723
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001223.2:p.Trp361Ser
CA301913
NM_001232.4:c.1082G>C