ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645416445
Gene: HCFC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
392726
ClinVar RCV Id:
RCV000443814
RCV003522979
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005325.2:p.Val1662Met
CA10556872
NM_005334.3:c.4984G>A