ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830286568
Gene: TRPV4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
137726
ClinVar RCV Id:
RCV000125618
RCV000330115
RCV000364968
RCV000275076
RCV000276187
RCV000316275
RCV000515055
RCV000988903
RCV001172931
RCV002426680
RCV002277274
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_671737.1:p.Glu780Lys
CA291402
NM_147204.2:c.2338G>A