ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645403184
Gene: CASQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
426285
ClinVar RCV Id:
RCV000489530
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001222.3:p.Asp114Gly
CA343253216
NM_001231.5:c.341A>G