ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658660377
Gene: HCFC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
450155
ClinVar RCV Id:
RCV000522865
RCV001314423
RCV002527603
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005325.2:p.Glu1298Lys
CA10557117
NM_005334.3:c.3892G>A