ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111376
Gene: HJV
HGNC
NCBI
Linked Data
ClinVar Variation Id:
216847
ClinVar RCV Id:
RCV001343367
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_998818.1:p.Gly250Val
CA336923
NM_213653.4:c.749G>T