ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915994588
Gene: CASR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
410357
ClinVar RCV Id:
RCV000497658
RCV001542562
RCV002230098
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171536.2:p.Ile139Thr
CA16611180
NM_001178065.2:c.416T>C