Canonical Allele Identifier: PA2573242814
Gene: HCFC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1448986
ClinVar RCV Id: RCV002004490 RCV003170133 RCV003438907
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_005325.2:p.Gly1202Arg
CA415122743
NM_005334.3:c.3604G>A
CA415122750
NM_005334.3:c.3604G>C