ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830527818
Gene: HJV
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV004399473
ClinVar Variation:
3106083
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_998818.1:p.Leu351Phe
CA1053955
NM_213653.4:c.1051C>T