ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580429096
Gene: TRPV4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_067638.3:p.Ala716Thr
CA386650017
NM_021625.5:c.2146G>A