ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826118188
Gene: TRPV4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001170904.1:p.Ser717Leu
CA6779881
NM_001177433.1:c.2150C>T