ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915965492
Gene: HGD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
707988
ClinVar RCV Id:
RCV000879173
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000178.2:p.Arg307Cys
CA2560016
NM_000187.4:c.919C>T