ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA200135
Gene: TRPV3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000172845
RCV001198158
RCV001208559
ClinVar Variation:
192256
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_659505.1:p.Leu673Phe
CA200134
NM_145068.4:c.2017C>T