ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645416364
Gene: HCFC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
235900
ClinVar RCV Id:
RCV000224972
RCV000493756
RCV002516244
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005325.2:p.Ala477Thr
CA10557513
NM_005334.3:c.1429G>A