ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830286200
Gene: TRPV4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
30469
ClinVar RCV Id:
RCV000023426
RCV000202508
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_671737.1:p.Ser482Tyr
CA259819
NM_147204.2:c.1445C>A