ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA338599
Gene: TRPV4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_067638.3:p.Ser94Leu
CA338597
NM_021625.5:c.281C>T