ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830286303
Gene: TRPV4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
418525
ClinVar RCV Id:
RCV000862047
RCV001174117
RCV002279236
RCV001704588
RCV002413317
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_671737.1:p.Pro578Leu
CA6780047
NM_147204.2:c.1733C>T