ClinGen Allele Registry
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Canonical Allele Identifier:
PA916078397
Gene: TRPV4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5001
ClinVar RCV Id:
RCV000005294
RCV000005295
RCV000192245
RCV000202561
RCV000236285
RCV000789587
RCV001796956
RCV002371763
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_671737.1:p.Arg316Cys
CA117182
NM_147204.2:c.946C>T