ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828053699
Gene: HK1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2640550
ClinVar RCV Id:
RCV003417464
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001345192.1:p.Leu448del
CA2695199503
NM_001358263.1:c.1342_1344del