ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830286489
Gene: TRPV4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
18432
ClinVar RCV Id:
RCV000005300
RCV000202509
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_671737.1:p.Pro739Arg
CA117191
NM_147204.2:c.2216C>G