Allele Registry

Canonical Allele Identifier: PA916078289

Gene: TRPV4 HGNC NCBI

ClinVar RCV:

RCV000202441

ClinVar Variation:

126479

HGVS (amino-acid)	Matching Registered Transcripts
NP_671737.1:p.Leu199Phe	CA347700 NM_147204.2:c.597G>C CA386656202 NM_147204.2:c.597G>T