ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830286204
Gene: TRPV4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_671737.1:p.Leu483Arg
CA386651599
NM_147204.2:c.1448T>G