ClinGen Allele Registry
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Canonical Allele Identifier:
PA915994996
Gene: CASR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
410348
ClinVar RCV Id:
RCV000468370
RCV000991736
RCV001824137
RCV003323549
RCV004022772
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171536.2:p.Arg465Trp
CA2569651
NM_001178065.2:c.1393C>T