ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830286285
Gene: TRPV4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
126473
ClinVar RCV Id:
RCV000202495
RCV000497423
RCV000755170
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_671737.1:p.Leu558Pro
CA347744
NM_147204.2:c.1673T>C