ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825593925
Gene: HP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
30941
ClinVar RCV:
RCV000017249
ClinVar Variation:
15902
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119574.1:p.Ile188Thr
CA126032
NM_001126102.3:c.563T>C