ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658679995
Gene: TRPV4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_067638.3:p.Ser46Phe
CA6780616
NM_021625.5:c.137C>T