ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741813146
Gene: HGD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2627699
ClinVar RCV Id:
RCV003388993
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000178.2:p.Ser305Phe
CA354073667
NM_000187.4:c.914C>T