ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645416415
Gene: HCFC1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_005325.2:p.Arg1253Cys
NM_005334.3:c.3757C>T