ClinGen Allele Registry
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Canonical Allele Identifier:
PA916078364
Gene: TRPV4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5000
ClinVar RCV Id:
RCV000005292
RCV000005293
RCV000192243
RCV000202467
RCV000235740
RCV000623703
RCV000763296
RCV003320352
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_671737.1:p.Arg269His
CA117180
NM_147204.2:c.806G>A