ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915994747
Gene: CASR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000054625
RCV000469248
RCV004018975
ClinVar Variation:
64438
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171536.2:p.Ser247Phe
CA216140
NM_001178065.2:c.740C>T