ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829980962
Gene: TRPV4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_067638.3:p.Pro230Ser
CA386656013
NM_021625.5:c.688C>T