ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829517362
Gene: H6PD
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002132101
ClinVar Variation:
1600034
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004276.2:p.Pro554Leu
CA575372
NM_004285.4:c.1661C>T