Canonical Allele Identifier: PA2741921071
Gene: HCFC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2590761
ClinVar RCV Id: RCV003349152 RCV003523162
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_005325.2:p.Arg1253His
CA10557134
NM_005334.3:c.3758G>A