ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830527796
Gene: HJV
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001366486
RCV002470996
RCV003493750
ClinVar Variation:
694655
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_998818.1:p.Cys317Tyr
CA342135224
NM_213653.4:c.950G>A