ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830527493
Gene: HJV
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3106086
ClinVar RCV Id:
RCV004399476
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_998818.1:p.Arg70Leu
CA1053766
NM_213653.4:c.209G>T