ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA353444
Gene: HCFC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
224121
ClinVar RCV Id:
RCV000209921
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005325.2:p.Pro1683Arg
CA353443
NM_005334.3:c.5048C>G