ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA144901
Gene: HCFC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005325.2:p.Ala115Val
CA144900
NM_005334.3:c.344C>T