ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830286577
Gene: TRPV4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_671737.1:p.Cys793_Arg802del
CA658797952
NM_147204.2:c.2377_2406del