ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658742069
Gene: HGD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
493367
ClinVar RCV Id:
RCV000584944
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000178.2:p.Pro32Ser
CA354082268
NM_000187.4:c.94C>T