ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741921063
Gene: HCFC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005325.2:p.Ala1230Val
CA10557155
NM_005334.3:c.3689C>T