ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139749352
Gene: TRPV4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_671737.1:p.Arg248Cys
CA6780435
NM_147204.2:c.742C>T