ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826117668
Gene: TRPV4
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000236449
RCV000461756
RCV001109753
RCV001109754
RCV001109755
RCV001109756
RCV001109757
RCV002321903
ClinVar Variation:
245915
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001170904.1:p.Thr333Met
CA6780342
NM_001177433.1:c.998C>T