ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580322891
Gene: HCFC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2432370
ClinVar RCV Id:
RCV003135518
RCV003994525
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005325.2:p.Ala1236Val
CA10557151
NM_005334.3:c.3707C>T