ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916078220
Gene: TRPV4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_671737.1:p.Ser46Phe
CA6780616
NM_147204.2:c.137C>T