Canonical Allele Identifier: PA100196
Gene: HP HGNC NCBI
ClinVar Allele:
30941
ClinVar RCV:
RCV000017249
ClinVar Variation:
15902
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_005134.1:p.Ile247Thr
CA126032
NM_005143.5:c.740T>C