ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826116688
Gene: TRPV4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
30469
ClinVar RCV Id:
RCV000023426
RCV000202508
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001170902.1:p.Ser508Tyr
CA259819
NM_001177431.1:c.1523C>A