ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA102807
Gene: HGD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2627728
ClinVar RCV Id:
RCV003389022
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000178.2:p.Phe329Cys
CA354073356
NM_000187.4:c.986T>G