ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499298368
Gene: TRPV4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1047412
ClinVar RCV Id:
RCV001352118
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_671737.1:p.Leu202Val
CA386656188
NM_147204.2:c.604C>G