ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA144905
Gene: HCFC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
66986
ClinVar RCV Id:
RCV000057508
RCV002513745
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005325.2:p.Ala73Thr
CA144904
NM_005334.3:c.217G>A