ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741813102
Gene: HGD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000178.2:p.Phe147Ser
CA354077467
NM_000187.4:c.440T>C