Canonical Allele Identifier: PA915994102
Gene: HCFC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 663515
ClinVar RCV Id: RCV000821405 RCV002537503
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_005325.2:p.Ser1188Leu
CA10557170
NM_005334.3:c.3563C>T