Canonical Allele Identifier: PA2499270785
Gene: HCFC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 996880
ClinVar RCV Id: RCV001291690
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_005325.2:p.Arg1244Cys
CA10557143
NM_005334.3:c.3730C>T