ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA199562
Gene: HPCA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000170354
RCV002054018
ClinVar Variation:
190120
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002134.2:p.Ala190Thr
CA199561
NM_002143.3:c.568G>A