ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA129256
Gene: TRPV4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
30476
ClinVar RCV Id:
RCV000023433
RCV000202517
RCV000413499
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_067638.3:p.Lys276Glu
CA129254
NM_021625.5:c.826A>G