ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139694419
Gene: CASR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
854641
ClinVar RCV Id:
RCV001059732
RCV002489658
RCV004031894
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171536.2:p.Ile748Thr
CA2569794
NM_001178065.2:c.2243T>C